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1. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Author

Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, and Gissen, Paul

Published
2023
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2. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK

Author

Carling, Rachel S., primary, Hedgethorne, Katy, additional, Chakrapani, Anupam, additional, Hall, Patricia L., additional, Flynn, Nick, additional, Greenfield, Toby, additional, Moat, Stuart J., additional, Ssali, Joshua, additional, Shakespeare, Lynette, additional, Taj, Nazia, additional, Wu, Teresa H. Y., additional, Anderson, Mark, additional, Ghosh, Arunabha, additional, Lemonde, Hugh, additional, Pierre, Germaine, additional, Sharrard, Mark, additional, Sreekantam, Sreevidya, additional, and Bonham, James R., additional

Published
2024
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3. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Author

Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, and Kutsche, Kerstin

Published
2021
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4. Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome

Author

Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S., Sonmezler, Ece, Macken, William L., Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J., Pope, Simon A.S., Heales, Simon J.R., Hammadi, Dania B.H., Alston, Charlotte L., Taylor, Robert W., Lochmuller, Hanns, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G., Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S., Horvath, Rita, Prudent, Julien, and Pitceathly, Robert D.S.

Published
2024
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6. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Author

Ng, Yi Shiau, Lax, Nichola Z., Maddison, Paul, Alston, Charlotte L., Blakely, Emma L., Hepplewhite, Philippa D., Riordan, Gillian, Meldau, Surita, Chinnery, Patrick F., Pierre, Germaine, Chronopoulou, Efstathia, Du, Ailian, Hughes, Imelda, Morris, Andrew A., Kamakari, Smaragda, Chrousos, Georgia, Rodenburg, Richard J., Saris, Christiaan G.J., Feeney, Catherine, Hardy, Steven A., Sakakibara, Takafumi, Sudo, Akira, Okazaki, Yasushi, Murayama, Kei, Mundy, Helen, Hanna, Michael G., Ohtake, Akira, Schaefer, Andrew M., Champion, Mike P., Turnbull, Doug M., Taylor, Robert W., Pitceathly, Robert D.S., McFarland, Robert, and Gorman, Gráinne S.

Published
2018
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7. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Published
2018
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9. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies

Author

Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, and Kutsche, Kerstin

Published
2021

10. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Author

Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., and Schimmel, Paul

Subjects
cholesterol pneumonitis, interstitial lung disease, Lung Diseases, Male, Heterozygote, tRNA synthetase, Adolescent, missense mutation, multi-system disease, non-coding variant, Infant, Genes, Recessive, bi-allelic mutation, Article, Amino Acyl-tRNA Synthetases, cerebral calcifications, Charcot-Marie-Tooth Disease, Child, Preschool, Protein Biosynthesis, Mutation, Humans, Female, non-canonical function, exome sequencing, Alleles
Abstract

The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially elucidate ex-translational activities. We present here five individuals from four families with a multi-system disease associated with bi-allelic mutations in FARSB that encodes the beta chain of the alpha2beta2 phenylalanine-tRNA synthetase (FARS). Collectively, the mutant alleles encompass a 5′-splice junction non-coding variant (SJV) and six missense variants, one of which is shared by unrelated individuals. The clinical condition is characterized by interstitial lung disease, cerebral aneurysms and brain calcifications, and cirrhosis. For the SJV, we confirmed exon skipping leading to a frameshift associated with noncatalytic activity. While the bi-allelic combination of the SJV with a p.Arg305Gln missense mutation in two individuals led to severe disease, cells from neither the asymptomatic heterozygous carriers nor the compound heterozygous affected individual had any defect in protein synthesis. These results support a disease mechanism independent of tRNA synthetase activities in protein translation and suggest that this FARS activity is essential for normal function in multiple organs.

Published
2018

11. Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

Author

Pinto, Alex, primary, Ashmore, Catherine, additional, Batzios, Spyros, additional, Daly, Anne, additional, Dawson, Charlotte, additional, Dixon, Marjorie, additional, Evans, Sharon, additional, Green, Diane, additional, Gribben, Joanna, additional, Hunjan, Inderdip, additional, Jameson, Elisabeth, additional, Newby, Camille, additional, Pierre, Germaine, additional, Rajwal, Sanjay, additional, Robertson, Louise, additional, Santra, Si, additional, Sharrard, Mark, additional, Vara, Roshni, additional, White, Lucy, additional, Wilcox, Gisela, additional, Yilmaz, Ozlem, additional, and MacDonald, Anita, additional

Published
2020
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12. Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Author

Cotta, Ana, primary, Alston, Charlotte L., additional, Baptista‐Junior, Sidney, additional, Paim, Julia F., additional, Carvalho, Elmano, additional, Navarro, Monica M., additional, Appleton, Marie, additional, Ng, Yi Shiau, additional, Valicek, Jaquelin, additional, da‐Cunha‐Junior, Antonio L., additional, Lima, Maria I., additional, Rocque Ferreira, Alessandra, additional, Takata, Reinaldo I., additional, Hargreaves, Iain P., additional, Gorman, Gráinne S., additional, McFarland, Robert, additional, Pierre, Germaine, additional, and Taylor, Robert W., additional

Published
2020
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13. Clinical presentation and proteomic signature of patients with TANGO2 mutations

Author

Generalitat de Catalunya, Association Française contre les Myopathies, European Research Council, European Commission, Fundació La Marató de TV3, Instituto de Salud Carlos III, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust, Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, María, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Kyle, Thompson, Navas, Plácido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita, Generalitat de Catalunya, Association Française contre les Myopathies, European Research Council, European Commission, Fundació La Marató de TV3, Instituto de Salud Carlos III, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust, Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, María, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Kyle, Thompson, Navas, Plácido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, and Horvath, Rita

Abstract

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, and encephalopathy with cognitive decline. We report nine subjects from seven independent families, and we studied muscle histology, respiratory chain enzyme activities in skeletal muscle and proteomic signature of fibroblasts. All nine subjects carried autosomal recessive TANGO2 mutations. Two carried the reported deletion of exons 3 to 9, one homozygous, one heterozygous with a 22q11.21 microdeletion inherited in trans. The other subjects carried three novel homozygous (c.262C>T/p.Arg88*; c.220A>C/p.Thr74Pro; c.380+1G>A), and two further novel heterozygous (c.6_9del/p.Phe6del); c.11‐13delTCT/p.Phe5del mutations. Immunoblot analysis detected a significant decrease of TANGO2 protein. Muscle histology showed mild variation of fiber diameter, no ragged‐red/cytochrome c oxidase‐negative fibers and a defect of multiple respiratory chain enzymes and coenzyme Q10 (CoQ10) in two cases, suggesting a possible secondary defect of oxidative phosphorylation. Proteomic analysis in fibroblasts revealed significant changes in components of the mitochondrial fatty acid oxidation, plasma membrane, endoplasmic reticulum‐Golgi network and secretory pathways. Clinical presentation of TANGO2 mutations is homogeneous and clinically recognizable. The hemizygous mutations in two patients suggest that some mutations leading to allele loss are difficult to detect. A combined defect of the respiratory chain enzymes and CoQ10 with altered levels of several membrane proteins provides molecular insights into the underlying pathophysiology and may guide rational new therapeutic interventions.

Published
2019

14. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cécile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cécile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Abstract

BACKGROUND: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. RESULTS: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers. CONCLUSIONS: Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin.

Published
2018

15. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?

Author

Repp, B, Mastantuono, E, Alston, C, Schiff, M, Haack, T, Rötig, A, Ardissone, A, Lombès, A, Catarino, C, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H, Wittig, I, Scurr, I, De Coo, I, Moroni, I, Smet, J, Mayr, J, Dai, L, De Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R, Mcfarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T, Herberg, U, Ahting, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R, Häberle, J, Vockley, J, Prokisch, H, Wortmann, S, Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, De Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, De Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia, Repp, B, Mastantuono, E, Alston, C, Schiff, M, Haack, T, Rötig, A, Ardissone, A, Lombès, A, Catarino, C, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H, Wittig, I, Scurr, I, De Coo, I, Moroni, I, Smet, J, Mayr, J, Dai, L, De Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R, Mcfarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T, Herberg, U, Ahting, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R, Häberle, J, Vockley, J, Prokisch, H, Wortmann, S, Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, De Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, De Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Abstract

Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. Results: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers. Conclusions: Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin.

Published
2018

16. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency:is riboflavin supplementation effective?

Author

Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia, Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Abstract

BACKGROUND: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.RESULTS: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers.CONCLUSIONS: Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin.

Published
2018

17. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rotig, Agnes, Ardissone, Anna, Lombes, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Ding, Wenhong, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joel, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Haberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Repp, B, Mastantuono, E, Alston, C, Schiff, M, Haack, T, Rötig, A, Ardissone, A, Lombès, A, Catarino, C, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H, Wittig, I, Scurr, I, De Coo, I, Moroni, I, Smet, J, Mayr, J, Dai, L, De Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R, Mcfarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T, Herberg, U, Ahting, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R, Häberle, J, Vockley, J, Prokisch, H, Wortmann, S, Apollo - University of Cambridge Repository, Reproduction and Genetics, Neurogenetics, Clinical sciences, Pediatrics, Medical Genetics, Neurology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and RS: FHML MaCSBio

Subjects
Electron Transport Complex I/metabolism, Male, Mitochondrial Diseases, genetics [Mitochondrial Diseases], PHENOTYPIC SPECTRUM, Riboflavin, therapeutic use [Riboflavin], lcsh:Medicine, Acidosis/genetics, Heart transplantation, OXIDATION, Acyl-CoA Dehydrogenase, drug therapy [Muscle Weakness], Neonatal, Activities Of Daily Living, Cardiomyopathy, Complex I, Heart Transplantation, Lactic Acidosis, Mitochondrial Disorder, Prognosis, Treatment, Vitamin, Activities of Daily Living, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Amino Acid Metabolism, Inborn Errors/genetics, Genetics (clinical), Cardiomyopathy, Hypertrophic/genetics, Muscle Weakness, genetics [Cardiomyopathy, Hypertrophic], Lactic acidosis, Inborn Errors, Activities of daily living, Riboflavin/therapeutic use, Mitochondrial disorder, metabolism [Acidosis], Lactic acidosi, metabolism [Mitochondrial Diseases], Acidosis, Amino Acid Metabolism, Inborn Errors, Cardiomyopathy, Hypertrophic, Electron Transport Complex I, Female, Humans, genetics [Muscle Weakness], SKELETAL-MUSCLE, pathology [Cardiomyopathy, Hypertrophic], pathology [Amino Acid Metabolism, Inborn Errors], DISORDERS, Prognosi, metabolism [Cardiomyopathy, Hypertrophic], pathology [Acidosis], Mitochondrial Diseases/genetics, DIAGNOSIS, metabolism [Acyl-CoA Dehydrogenase], Muscle Weakness/drug therapy, genetics [Amino Acid Metabolism, Inborn Errors], ddc:610, metabolism [Electron Transport Complex I], pathology [Muscle Weakness], MUTATIONS, deficiency [Acyl-CoA Dehydrogenase], Research, lcsh:R, Biology and Life Sciences, metabolism [Muscle Weakness], BEZAFIBRATE, Acyl-CoA Dehydrogenase/deficiency, metabolism [Amino Acid Metabolism, Inborn Errors], PAGE, Amino Acid Metabolism, pathology [Mitochondrial Diseases], Hypertrophic, CELLS, COMPLEX-I DEFICIENCY, genetics [Acidosis], Human medicine, genetics [Acyl-CoA Dehydrogenase]
Abstract

Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. Results We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50% not surviving the first 2 years) comparing to patients with a later presentation (more than 90% surviving 10 years). The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Interestingly, severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers. Conclusions Our data show that riboflavin treatment improves complex I activity in the majority of patient-derived fibroblasts tested. This effect was also reported for most of the treated patients and is mirrored in the survival data. In the patient group with disease-onset below 1 year of age, we observed a statistically-significant better survival for patients treated with riboflavin. Electronic supplementary material The online version of this article (10.1186/s13023-018-0784-8) contains supplementary material, which is available to authorized users.

Published
2017
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18. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Author

Feichtinger, René G., Oláhová, Monika, Kishita, Yoshihito, Garone, Caterina, Kremer, Laura S., Yagi, Mikako, Uchiumi, Takeshi, Jourdain, Alexis A., Thompson, Kyle, D’Souza, Aaron R., Kopajtich, Robert, Alston, Charlotte L., Koch, Johannes, Sperl, Wolfgang, Mastantuono, Elisa, Strom, Tim M., Wortmann, Saskia B., Meitinger, Thomas, Pierre, Germaine, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M., Lightowlers, Robert N., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Moggio, Maurizio, Sciacco, Monica, Comi, Giacomo P., Ronchi, Dario, Murayama, Kei, Ohtake, Akira, Rebelo-Guiomar, Pedro, Kohda, Masakazu, Kang, Dongchon, Mayr, Johannes A., Taylor, Robert W., Okazaki, Yasushi, Minczuk, Michal, and Prokisch, Holger

Subjects
ddc
Published
2017

19. Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Author

Cotta, Ana, Alston, Charlotte L., Baptista‐Junior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, da‐Cunha‐Junior, Antonio L., Lima, Maria I., Rocque Ferreira, Alessandra, Takata, Reinaldo I., Hargreaves, Iain P., Gorman, Gráinne S., McFarland, Robert, Pierre, Germaine, and Taylor, Robert W.

Published
2020
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20. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Author

Feichtinger, René G., primary, Oláhová, Monika, additional, Kishita, Yoshihito, additional, Garone, Caterina, additional, Kremer, Laura S., additional, Yagi, Mikako, additional, Uchiumi, Takeshi, additional, Jourdain, Alexis A., additional, Thompson, Kyle, additional, D’Souza, Aaron R., additional, Kopajtich, Robert, additional, Alston, Charlotte L., additional, Koch, Johannes, additional, Sperl, Wolfgang, additional, Mastantuono, Elisa, additional, Strom, Tim M., additional, Wortmann, Saskia B., additional, Meitinger, Thomas, additional, Pierre, Germaine, additional, Chinnery, Patrick F., additional, Chrzanowska-Lightowlers, Zofia M., additional, Lightowlers, Robert N., additional, DiMauro, Salvatore, additional, Calvo, Sarah E., additional, Mootha, Vamsi K., additional, Moggio, Maurizio, additional, Sciacco, Monica, additional, Comi, Giacomo P., additional, Ronchi, Dario, additional, Murayama, Kei, additional, Ohtake, Akira, additional, Rebelo-Guiomar, Pedro, additional, Kohda, Masakazu, additional, Kang, Dongchon, additional, Mayr, Johannes A., additional, Taylor, Robert W., additional, Okazaki, Yasushi, additional, Minczuk, Michal, additional, and Prokisch, Holger, additional

Published
2017
Full Text
View/download PDF

22. Additional file 3: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S2. Calculation of European incidence of ACAD9 deficiency (DOCX 36Â kb)

23. Additional file 2: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S1. Compound heterozygous and homozygous ACAD9 variants identified in 67 patients present in this study (DOCX 75Â kb)

24. Additional file 1: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Additional data. (DOCX 38Â kb)

25. Additional file 5: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, Joél Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Figure S1. Representative picture of Complex I assembly in fibroblasts of individual 1 (A, upper panels) Two-dimensional BN/SDS-PAGE separation and quantification of fluorescent-labelled mitochondrial complexes from 10 mg patient (left) and control fibroblasts (right) are shown. (A, lower panels) show silver stained 2 D gels. (B) Quantified Supercomplexes in 2D gels from control and patient fibroblast with and without bezafibrate treatment for 72 h. (C) Panoramaplots of 2D gels with assignment of signals used for quantification of complexes. Assignment of complexes: O, OGDC, oxoglutarate dehydrogenase complex; V, complex V or ATP synthase; III, complex III or cytochrome c reductase; IV, complex IV or cytochrome c oxidase; S, supercomplexes composed of respiratory chain complexes I, III, and IV. 2-D gels were scanned side by side for direct comparison and are shown as pseudocolors. (pdf). (PDF 1109 kb)

26. Additional file 4: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S3. Clinical characteristics of the 67 patients present in this study (DOCX 72Â kb)

27. Additional file 5: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, Joél Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Figure S1. Representative picture of Complex I assembly in fibroblasts of individual 1 (A, upper panels) Two-dimensional BN/SDS-PAGE separation and quantification of fluorescent-labelled mitochondrial complexes from 10 mg patient (left) and control fibroblasts (right) are shown. (A, lower panels) show silver stained 2 D gels. (B) Quantified Supercomplexes in 2D gels from control and patient fibroblast with and without bezafibrate treatment for 72 h. (C) Panoramaplots of 2D gels with assignment of signals used for quantification of complexes. Assignment of complexes: O, OGDC, oxoglutarate dehydrogenase complex; V, complex V or ATP synthase; III, complex III or cytochrome c reductase; IV, complex IV or cytochrome c oxidase; S, supercomplexes composed of respiratory chain complexes I, III, and IV. 2-D gels were scanned side by side for direct comparison and are shown as pseudocolors. (pdf). (PDF 1109 kb)

28. Additional file 3: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S2. Calculation of European incidence of ACAD9 deficiency (DOCX 36Â kb)

29. Additional file 4: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S3. Clinical characteristics of the 67 patients present in this study (DOCX 72Â kb)

30. Additional file 1: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Additional data. (DOCX 38Â kb)

31. Additional file 2: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Author

Repp, Birgit, Mastantuono, Elisa, Alston, Charlotte, Schiff, Manuel, Haack, Tobias, RÜtig, Agnes, Ardissone, Anna, LombèS, Anne, Catarino, Claudia, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert, Wittig, Ilka, Scurr, Ingrid, Irenaeus De Coo, Moroni, Isabella, JoÊl Smet, Mayr, Johannes, Lifang Dai, Meirleir, Linda De, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Marie-Cecile Nassogne, Ling, Han, Fang, Fang, Freisinger, Peter, Coster, Rudy Van, Strecker, Valentina, Taylor, Robert, HäBerle, Johannes, Vockley, Jerry, Prokisch, Holger, and Wortmann, Saskia

Subjects
3. Good health
Abstract

Table S1. Compound heterozygous and homozygous ACAD9 variants identified in 67 patients present in this study (DOCX 75Â kb)

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