12 results on '"Vestito, Letizia"'
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2. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Author
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Park, Joohyun, primary, Tucci, Arianna, additional, Cipriani, Valentina, additional, Demidov, German, additional, Rocca, Clarissa, additional, Senderek, Jan, additional, Butryn, Michaela, additional, Velic, Ana, additional, Lam, Tanya, additional, Galanaki, Evangelia, additional, Cali, Elisa, additional, Vestito, Letizia, additional, Maroofian, Reza, additional, Deininger, Natalie, additional, Rautenberg, Maren, additional, Admard, Jakob, additional, Hahn, Gesa-Astrid, additional, Bartels, Claudius, additional, van Os, Nienke J.H., additional, Horvath, Rita, additional, Chinnery, Patrick F., additional, Tiet, May Yung, additional, Hewamadduma, Channa, additional, Hadjivassiliou, Marios, additional, Downes, Susan M., additional, Németh, Andrea H., additional, Tofaris, George K., additional, Wood, Nicholas W., additional, Hayer, Stefanie N., additional, Bender, Friedemann, additional, Menden, Benita, additional, Cordts, Isabell, additional, Klein, Katrin, additional, Nguyen, Huu Phuc, additional, Krauss, Joachim K., additional, Blahak, Christian, additional, Strom, Tim M., additional, Sturm, Marc, additional, van de Warrenburg, Bart, additional, Lerche, Holger, additional, Maček, Boris, additional, Synofzik, Matthis, additional, Ossowski, Stephan, additional, Timmann, Dagmar, additional, Wolf, Marc E., additional, Smedley, Damian, additional, Riess, Olaf, additional, Schöls, Ludger, additional, Houlden, Henry, additional, Haack, Tobias B., additional, and Hengel, Holger, additional
- Published
- 2023
- Full Text
- View/download PDF
3. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
- Author
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Bryant, Dale, Seda, Marian, Peskett, Emma, Maurer, Constance, Pomeranz, Gideon, Ghosh, Marcus, Hawkins, Thomas A., Cleak, James, Datta, Sanchari, Hariri, Hanaa, Eckert, Kaitlyn M., Jafree, Daniyal J., Walsh, Claire, Demetriou, Charalambos, Ishida, Miho, Alemán-Charlet, Cristina, Vestito, Letizia, Seselgyte, Rimante, McDonald, Jeffrey G., Bitner-Glindzicz, Maria, Hemberger, Myriam, Rihel, Jason, Teboul, Lydia, Henne, W. Mike, Jenkins, Dagan, Moore, Gudrun E., and Stanier, Philip
- Published
- 2020
- Full Text
- View/download PDF
4. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
- Author
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Genetica Groep Van Tintelen, Genetica Klinische Genetica, Cancer, Child Health, Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, Smedley, Damian, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Cancer, Child Health, Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, and Smedley, Damian
- Published
- 2023
5. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Author
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Park, Joohyun, primary, Tucci, Arianna, additional, Cipriani, Valentina, additional, Demidov, German, additional, Rocca, Clarissa, additional, Senderek, Jan, additional, Butryn, Michaela, additional, Velic, Ana, additional, Lam, Tanya, additional, Galanaki, Evangelia, additional, Cali, Elisa, additional, Vestito, Letizia, additional, Maroofian, Reza, additional, Deininger, Natalie, additional, Rautenberg, Maren, additional, Admard, Jakob, additional, Hahn, Gesa-Astrid, additional, Bartels, Claudius, additional, van Os, Nienke J.H., additional, Horvath, Rita, additional, Chinnery, Patrick F., additional, Tiet, May Yung, additional, Hewamadduma, Channa, additional, Hadjivassiliou, Marios, additional, Tofaris, George K., additional, Wood, Nicholas W., additional, Hayer, Stefanie N., additional, Bender, Friedemann, additional, Menden, Benita, additional, Cordts, Isabell, additional, Klein, Katrin, additional, Nguyen, Huu Phuc, additional, Krauss, Joachim K., additional, Blahak, Christian, additional, Strom, Tim M., additional, Sturm, Marc, additional, van de Warrenburg, Bart, additional, Lerche, Holger, additional, Maček, Boris, additional, Synofzik, Matthis, additional, Ossowski, Stephan, additional, Timmann, Dagmar, additional, Wolf, Marc E., additional, Smedley, Damian, additional, Riess, Olaf, additional, Schöls, Ludger, additional, Houlden, Henry, additional, Haack, Tobias B., additional, Hengel, Holger, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Brittain, H., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, Furió-Tarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tregidgo, C., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, and Zarowiecki, M., additional
- Published
- 2022
- Full Text
- View/download PDF
6. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
- Author
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Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Consortium, Genomics England Research, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, and Botía, Juan
- Subjects
FRIEDREICH'S ataxia ,SPINOCEREBELLAR ataxia ,FUNCTIONAL genomics ,MICROSATELLITE repeats ,GENE expression ,WHOLE genome sequencing - Abstract
Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction. Associated pathogenic variants in more than 300 genes have been described, leading to a detailed genetic classification partitioned by age-of-onset. Despite these advances, up to 75% of patients with ataxia remain molecularly undiagnosed even following whole genome sequencing, as exemplified in the 100 000 Genomes Project. This study aimed to understand whether we can improve our knowledge of the genetic architecture of hereditary ataxia by leveraging functional genomic annotations, and as a result, generate insights and strategies that raise the diagnostic yield. To achieve these aims, we used publicly-available multi-omics data to generate 294 genic features, capturing information relating to a gene's structure, genetic variation, tissue-specific, cell-type-specific and temporal expression, as well as protein products of a gene. We studied these features across genes typically causing childhood-onset, adult-onset or both types of disease first individually, then collectively. This led to the generation of testable hypotheses which we investigated using whole genome sequencing data from up to 2182 individuals presenting with ataxia and 6658 non-neurological probands recruited in the 100 000 Genomes Project. Using this approach, we demonstrated a high short tandem repeat (STR) density within childhood-onset genes suggesting that we may be missing pathogenic repeat expansions within this cohort. This was verified in both childhood- and adult-onset ataxia patients from the 100 000 Genomes Project who were unexpectedly found to have a trend for higher repeat sizes even at naturally-occurring STRs within known ataxia genes, implying a role for STRs in pathogenesis. Using unsupervised analysis, we found significant similarities in genomic annotation across the gene panels, which suggested adult- and childhood-onset patients should be screened using a common diagnostic gene set. We tested this within the 100 000 Genomes Project by assessing the burden of pathogenic variants among childhood-onset genes in adult-onset patients and vice versa. This demonstrated a significantly higher burden of rare, potentially pathogenic variants in conventional childhood-onset genes among individuals with adult-onset ataxia. Our analysis has implications for the current clinical practice in genetic testing for hereditary ataxia. We suggest that the diagnostic rate for hereditary ataxia could be increased by removing the age-of-onset partition, and through a modified screening for repeat expansions in naturally-occurring STRs within known ataxia-associated genes, in effect treating these regions as candidate pathogenic loci. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
7. Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects
- Author
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TN groep Meye, The Neural Circuits Underlying Stress Eating, Brain, Montalban, Enrica, Giralt, Albert, Taing, Lieng, Schut, Evelien H S, Supiot, Laura F, Castell, Laia, Nakamura, Yuki, de Pins, Benoit, Pelosi, Assunta, Goutebroze, Laurence, Tuduri, Pola, Wang, Wei, Neiburga, Katrina Daila, Vestito, Letizia, Castel, Julien, Luquet, Serge, Nairn, Angus C, Hervé, Denis, Heintz, Nathaniel, Martin, Claire, Greengard, Paul, Valjent, Emmanuel, Meye, Frank J, Gambardella, Nicolas, Roussarie, Jean-Pierre, Girault, Jean-Antoine, TN groep Meye, The Neural Circuits Underlying Stress Eating, Brain, Montalban, Enrica, Giralt, Albert, Taing, Lieng, Schut, Evelien H S, Supiot, Laura F, Castell, Laia, Nakamura, Yuki, de Pins, Benoit, Pelosi, Assunta, Goutebroze, Laurence, Tuduri, Pola, Wang, Wei, Neiburga, Katrina Daila, Vestito, Letizia, Castel, Julien, Luquet, Serge, Nairn, Angus C, Hervé, Denis, Heintz, Nathaniel, Martin, Claire, Greengard, Paul, Valjent, Emmanuel, Meye, Frank J, Gambardella, Nicolas, Roussarie, Jean-Pierre, and Girault, Jean-Antoine
- Published
- 2022
8. Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function
- Author
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Konopka, Tomasz, primary, Vestito, Letizia, additional, and Smedley, Damian, additional
- Published
- 2021
- Full Text
- View/download PDF
9. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Author
-
Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., and Hengel, Holger
- Abstract
Biallelic variants in UCHL1have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1variants on the basis of results from cohort-based burden analyses.
- Published
- 2022
- Full Text
- View/download PDF
10. Missense variants in RPH3Acause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
- Author
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Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M., Kelley, Whitley V., Vestito, Letizia, Sisodiya, Sanjay M., Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D., Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, and Brusco, Alfredo
- Abstract
RPH3Aencodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition. We investigated the effect of variants in RPH3Ain patients with neurodevelopmental disorders.
- Published
- 2023
- Full Text
- View/download PDF
11. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Author
-
Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Downes, Susan M., Németh, Andrea H., Tofaris, George K., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., and Hengel, Holger
- Published
- 2023
- Full Text
- View/download PDF
12. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
- Author
-
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL, Wood N, Hardy JA, Smedley D, Houlden H, Botía J, and Ryten M
- Subjects
- Adult, Humans, Ataxia diagnosis, Ataxia genetics, Genomics, Genetic Testing, Spinocerebellar Degenerations genetics, Cerebellar Ataxia diagnosis, Cerebellar Ataxia genetics
- Abstract
Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction. Associated pathogenic variants in more than 300 genes have been described, leading to a detailed genetic classification partitioned by age-of-onset. Despite these advances, up to 75% of patients with ataxia remain molecularly undiagnosed even following whole genome sequencing, as exemplified in the 100 000 Genomes Project. This study aimed to understand whether we can improve our knowledge of the genetic architecture of hereditary ataxia by leveraging functional genomic annotations, and as a result, generate insights and strategies that raise the diagnostic yield. To achieve these aims, we used publicly-available multi-omics data to generate 294 genic features, capturing information relating to a gene's structure, genetic variation, tissue-specific, cell-type-specific and temporal expression, as well as protein products of a gene. We studied these features across genes typically causing childhood-onset, adult-onset or both types of disease first individually, then collectively. This led to the generation of testable hypotheses which we investigated using whole genome sequencing data from up to 2182 individuals presenting with ataxia and 6658 non-neurological probands recruited in the 100 000 Genomes Project. Using this approach, we demonstrated a high short tandem repeat (STR) density within childhood-onset genes suggesting that we may be missing pathogenic repeat expansions within this cohort. This was verified in both childhood- and adult-onset ataxia patients from the 100 000 Genomes Project who were unexpectedly found to have a trend for higher repeat sizes even at naturally-occurring STRs within known ataxia genes, implying a role for STRs in pathogenesis. Using unsupervised analysis, we found significant similarities in genomic annotation across the gene panels, which suggested adult- and childhood-onset patients should be screened using a common diagnostic gene set. We tested this within the 100 000 Genomes Project by assessing the burden of pathogenic variants among childhood-onset genes in adult-onset patients and vice versa. This demonstrated a significantly higher burden of rare, potentially pathogenic variants in conventional childhood-onset genes among individuals with adult-onset ataxia. Our analysis has implications for the current clinical practice in genetic testing for hereditary ataxia. We suggest that the diagnostic rate for hereditary ataxia could be increased by removing the age-of-onset partition, and through a modified screening for repeat expansions in naturally-occurring STRs within known ataxia-associated genes, in effect treating these regions as candidate pathogenic loci., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)
- Published
- 2023
- Full Text
- View/download PDF
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