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1. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera

Published
2024
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3. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle C., Boomsma, Dorret I., Roessner, Veit, Wolanczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, Dietrich, Andrea, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., and Paschou, Peristera

Published
2023
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4. Genomic variants and inferred biological processes in multiplex families with Tourette syndrome

Author

Fichna, Jakub P., Borczyk, Malgorzata, Piechota, Marcin, Korostynski, Michal, Zekanowski, Cezary, and Janik, Piotr

Subjects
Tourette's syndrome -- Development and progression, Genomics, Genes, Nervous system diseases -- Development and progression, Genomes, Health, Psychology and mental health
Abstract

Background: Tourette syndrome is a developmental neuropsychiatric disorder. Its etiology is complex and elusive, although an important role of genetic factors has been established. The aim of the present study was to identify the genomic basis of Tourette syndrome in a group of families with affected members in 2 or 3 generations. Methods: Whole-genome sequencing was performed followed by co-segregation and bioinformatic analyses. Identified variants were used to select candidate genes, which were then subjected to gene ontology and pathway enrichment analysis. Results: The study group included 17 families comprising 80 patients with Tourette syndrome and 44 healthy family members. Co-segregation analysis and subsequent prioritization of variants pinpointed 37 rare and possibly pathogenic variants shared among affected individuals within a single family. Three such variants, in the ALDH2, DLD and ALDH1B1 genes, could influence oxidoreductase activity in the brain. Two variants, in SLC17A8 and BSN genes, were involved in sensory processing of sound by inner hair cells of the cochlea. Enrichment analysis of genes whose rare variants were present in all patients from at least 2 families identified significant gene sets implicated in cell-cell adhesion, cell junction assembly and organization, processing of sound, synapse assembly, and synaptic signalling processes. Limitations: We did not examine intergenic variants, but they still could influence clinical phenotype. Conclusion: Our results provide a further argument for a role of adhesion molecules and synaptic transmission in neuropsychiatric diseases. Moreover, an involvement of processes related to oxidative stress response and sound-sensing in the pathology of Tourette syndrome seems likely., Introduction Tourette syndrome is a neurodevelopmental disorder characterized by motor and vocal/phonic tics persisting for longer than a year. The clinical phenotype of Tourette syndrome belongs to the spectrum of [...]

Published
2023
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5. A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

Author

Hernandez, Israel, Luna, Gabriel, Rauch, Jennifer N, Reis, Surya A, Giroux, Michel, Karch, Celeste M, Boctor, Daniel, Sibih, Youssef E, Storm, Nadia J, Diaz, Antonio, Kaushik, Susmita, Zekanowski, Cezary, Kang, Alexander A, Hinman, Cassidy R, Cerovac, Vesna, Guzman, Elmer, Zhou, Honjun, Haggarty, Stephen J, Goate, Alison M, Fisher, Steven K, Cuervo, Ana M, and Kosik, Kenneth S

Subjects
Neurosciences, Neurodegenerative, Rare Diseases, Frontotemporal Dementia (FTD), Alzheimer's Disease, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Alzheimer's Disease Related Dementias (ADRD), Acquired Cognitive Impairment, Dementia, Development of treatments and therapeutic interventions, Aetiology, 5.1 Pharmaceuticals, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Disease Models, Animal, Enzyme Inhibitors, Farnesyltranstransferase, Female, GTP-Binding Proteins, Humans, Induced Pluripotent Stem Cells, Lysosomes, Male, Mice, Mice, Transgenic, Mutation, Neurons, Piperidines, Proteolysis, Pyridines, RNA, Small Interfering, Tauopathies, Translational Research, Biomedical, tau Proteins, Biological Sciences, Medical and Health Sciences
Abstract

Tau inclusions are a shared feature of many neurodegenerative diseases, among them frontotemporal dementia caused by tau mutations. Treatment approaches for these conditions include targeting posttranslational modifications of tau proteins, maintaining a steady-state amount of tau, and preventing its tendency to aggregate. We discovered a new regulatory pathway for tau degradation that operates through the farnesylated protein, Rhes, a GTPase in the Ras family. Here, we show that treatment with the farnesyltransferase inhibitor lonafarnib reduced Rhes and decreased brain atrophy, tau inclusions, tau sumoylation, and tau ubiquitination in the rTg4510 mouse model of tauopathy. In addition, lonafarnib treatment attenuated behavioral abnormalities in rTg4510 mice and reduced microgliosis in mouse brain. Direct reduction of Rhes in the rTg4510 mouse by siRNA reproduced the results observed with lonafarnib treatment. The mechanism of lonafarnib action mediated by Rhes to reduce tau pathology was shown to operate through activation of lysosomes. We finally showed in mouse brain and in human induced pluripotent stem cell-derived neurons a normal developmental increase in Rhes that was initially suppressed by tau mutations. The known safety of lonafarnib revealed in human clinical trials for cancer suggests that this drug could be repurposed for treating tauopathies.

Published
2019

7. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

National Institutes of Health (US), Lundbeck Foundation, German Research Foundation, Royal Netherlands Academy of Arts and Sciences, National Science Centre (Poland), National Institute for Health and Care Research (US), NIHR Biomedical Research Centre (UK), Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle, Boomsma, Dorret I., Roessner, Veit, Wolańczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya‑Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Münchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Dietrich, Andrea, The TS-EUROTRAIN Network, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., Paschou, Peristera, National Institutes of Health (US), Lundbeck Foundation, German Research Foundation, Royal Netherlands Academy of Arts and Sciences, National Science Centre (Poland), National Institute for Health and Care Research (US), NIHR Biomedical Research Centre (UK), Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle, Boomsma, Dorret I., Roessner, Veit, Wolańczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya‑Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Münchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Dietrich, Andrea, The TS-EUROTRAIN Network, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., and Paschou, Peristera

Abstract

Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

Published
2023

8. Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

Author

National Science Foundation (US), Jain, Pritesh R., Burch, Myson, Martínez, Melanie, Mir, Pablo, Fichna, Jakub P., Zekanowski, Cezary, Rizzo, Renata, Tümer, Zeynep, Barta, Csaba, Yannaki, Evangelia, Stamatoyannopoulos, John, Drineas, Petros, Paschou, Peristera, National Science Foundation (US), Jain, Pritesh R., Burch, Myson, Martínez, Melanie, Mir, Pablo, Fichna, Jakub P., Zekanowski, Cezary, Rizzo, Renata, Tümer, Zeynep, Barta, Csaba, Yannaki, Evangelia, Stamatoyannopoulos, John, Drineas, Petros, and Paschou, Peristera

Abstract

Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world. A clear variation in GWAS-based genetic risk was observed based on ancestry and we identified populations that have a higher genetic liability for developing certain disorders. We found that for four out of the 14 studied disorders, PRS significantly correlates to disease prevalence within Europe. We also found significant correlations between worldwide disease prevalence and PRS for eight of the studied disorders with Multiple Sclerosis genetic risk having the highest correlation to disease prevalence. Based on current GWAS results, the across population differences in genetic risk for certain disorders can potentially be used to understand differences in disease prevalence and identify populations with the highest genetic liability. The study highlights both the limitations of PRS based on current GWAS but also the fact that in some cases, PRS may already have high predictive power. This could be due to the genetic architecture of specific disorders or increased GWAS power in some cases.

Published
2023

9. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Tsetsos, Fotis, primary, Topaloudi, Apostolia, additional, Jain, Pritesh, additional, Yang, Zhiyu, additional, Yu, Dongmei, additional, Kolovos, Petros, additional, Tumer, Zeynep, additional, Rizzo, Renata, additional, Hartmann, Andreas, additional, Depienne, Christel, additional, Worbe, Yulia, additional, Müller-Vahl, Kirsten R., additional, Cath, Danielle C., additional, Boomsma, Dorret I., additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barta, Csaba, additional, Nemoda, Zsofia, additional, Tarnok, Zsanett, additional, Padmanabhuni, Shanmukha S., additional, Buxbaum, Joseph D., additional, Grice, Dorothy, additional, Glennon, Jeffrey, additional, Stefansson, Hreinn, additional, Hengerer, Bastian, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John A., additional, Benaroya-Milshtein, Noa, additional, Cardona, Francesco, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Huyser, Chaim, additional, Mir, Pablo, additional, Morer, Astrid, additional, Mueller, Norbert, additional, Munchau, Alexander, additional, Plessen, Kerstin J., additional, Porcelli, Cesare, additional, Roessner, Veit, additional, Walitza, Susanne, additional, Schrag, Anette, additional, Martino, Davide, additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Willsey, A. Jeremy, additional, Dietrich, Andrea, additional, Davis, Lea K., additional, Crowley, James J., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Georgitsi, Marianthi, additional, Hoekstra, Pieter J., additional, Paschou, Peristera, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Budman, Cathy L., additional, Coppola, Giovanni, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Greenberg, Erica, additional, Hirschtritt, Matthew E., additional, Huang, Alden Y., additional, Illmann, Cornelia, additional, King, Robert A., additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, McMahon, William M., additional, Neale, Benjamin M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan H., additional, Sul, Jae Hoon, additional, Androutsos, Christos, additional, Basha, Entela, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Janik, Piotr, additional, Kapisyzi, Mira, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tsironi, Vaia, additional, Apter, Alan, additional, Ball, Juliane, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Buse, Judith, additional, Vela, Marta Correa, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Madruga-Garrido, Marcos, additional, Pellico, Alessandra, additional, Ruhrman, Daphna, additional, Schnell, Jaana, additional, Silvestri, Paola Rosaria, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Gloor, Friederike Tagwerker, additional, Turner, Victoria L., additional, Weidinger, Elif, additional, Alexander, John, additional, Aranyi, Tamas, additional, Buisman, Wim R., additional, Buitelaar, Jan K., additional, Driessen, Nicole, additional, Drineas, Petros, additional, Fan, Siyan, additional, Forde, Natalie J., additional, Gerasch, Sarah, additional, van den Heuvel, Odile A., additional, Jespersgaard, Cathrine, additional, Kanaan, Ahmad S., additional, Möller, Harald E., additional, Nawaz, Muhammad S., additional, Nespoli, Ester, additional, Pagliaroli, Luca, additional, Poelmans, Geert, additional, Pouwels, Petra J.W., additional, Rizzo, Francesca, additional, Veltman, Dick J., additional, van der Werf, Ysbrand D., additional, Widomska, Joanna, additional, Zilhäo, Nuno R., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Fernandez, Thomas V., additional, Gilbert, Donald L., additional, Hong, Hyun Ju, additional, Ibanez-Gomez, Laura, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L., additional, Maras, Athanasios, additional, Murphy, Tara L., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, State, Matthew W., additional, Visscher, Frank, additional, Wang, Sheng, additional, and Zinner, Samuel H., additional

Published
2023
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10. A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

Author

Gaweda-Walerych, Katarzyna, primary, Sitek, Emilia J., additional, Borczyk, Małgorzata, additional, Narożańska, Ewa, additional, Brockhuis, Bogna, additional, Korostyński, Michał, additional, Schinwelski, Michał, additional, Siemiński, Mariusz, additional, Sławek, Jarosław, additional, and Zekanowski, Cezary, additional

Published
2022
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13. PARK2 variability in Polish Parkinson’s disease patients - interaction with mitochondrial haplogroups

Author

Gaweda-Walerych, Katarzyna, Safranow, Krzysztof, Jasinska-Myga, Barbara, Bialecka, Monika, Klodowska-Duda, Gabriela, Rudzinska, Monika, Czyzewski, Krzysztof, Cobb, Stephanie A., Slawek, Jaroslaw, Styczynska, Maria, Opala, Grzegorz, Drozdzik, Marek, Nishioka, Kenya, Farrer, Matthew J., Ross, Owen A., Wszolek, Zbigniew K., Barcikowska, Maria, and Zekanowski, Cezary

Published
2012
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16. Polygenic risk scores based on European GWAS correlate to disease prevalence differences around the world

Author

Jain, Pritesh R, primary, Burch, Myson C, additional, Martinez, Melanie B, additional, Mir, Pablo, additional, Fichna, Jakub, additional, Zekanowski, Cezary, additional, Rizzo, Renata, additional, Tumer, Zeynep, additional, Barta, Csaba, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John, additional, Drineas, Petros S, additional, and Paschou, Peristera R, additional

Published
2021
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19. Putative founder effect in the Polish, Iranian and United States populations for the L144SSOD1mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Author

Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, Berdynski, Mariusz, Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, and Berdynski, Mariusz

Abstract

Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.

Published
2021
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22. Association study of cholesterol-related genes in Alzheimer’s disease

Author

Wollmer, M. Axel, Sleegers, Kristel, Ingelsson, Martin, Zekanowski, Cezary, Brouwers, Nathalie, Maruszak, Aleksandra, Brunner, Fabienne, Huynh, Kim-Dung, Kilander, Lena, Brundin, Rose-Marie, Hedlund, Marie, Giedraitis, Vilmantas, Glaser, Anna, Engelborghs, Sebastiaan, De Deyn, Peter P., Kapaki, Elisabeth, Tsolaki, Magdalini, Daniilidou, Makrina, Molyva, Dimitra, Paraskevas, George P., Thal, Dietmar R., Barcikowska, Maria, Kuznicki, Jacek, Lannfelt, Lars, Van Broeckhoven, Christine, Nitsch, Roger M., Hock, Christoph, and Papassotiropoulos, Andreas

Published
2007
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23. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Author

Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, and Berdynski, Mariusz

Subjects
nutritional and metabolic diseases
Abstract

Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.

Published
2020
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28. Additional file 5: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Author

Fichna, Jakub, Macias, Anna, Piechota, Marcin, Michał KorostyńSki, Potulska-Chromik, Anna, Redowicz, Maria, and Zekanowski, Cezary

Subjects
musculoskeletal diseases
Abstract

Selected genes with reported skeletal muscle expression which could contribute to LGMD. (DOCX 16 kb)

Published
2018
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29. Association of serotoninergic pathway gene variants with elite athletic status in the Polish population

Author

Peplonska, Beata, primary, Safranow, Krzysztof, additional, Adamczyk, Jakub, additional, Boguszewski, Dariusz, additional, Szymański, Konrad, additional, Soltyszewski, Ireneusz, additional, Barczak, Anna, additional, Siewierski, Marcin, additional, Ploski, Rafal, additional, Sozanski, Henryk, additional, and Zekanowski, Cezary, additional

Published
2019
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30. Farnesyl Transferase Inhibition for the Treatment of Tauopathies

Author

Hernandez, Israel, primary, Luna, Gabriel, additional, Rauch, Jennifer N, additional, Giroux, Michel, additional, Karch, Celeste M, additional, Boctor, Daniel, additional, Storm, Nadia J, additional, Diaz, Antonio, additional, Zekanowski, Cezary, additional, Kang, Alexander A, additional, Hinman, Cassidy, additional, Cerovac, Vesna, additional, Guzman, Elmer, additional, Zhou, Honjun, additional, Goate, Alison, additional, Fisher, Steven K, additional, Cuervo, Ana M, additional, and Kosik, Kenneth S., additional

Published
2018
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33. Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease

Author

Wezyk, Michalina, Szybinska, Aleksandra, Wojsiat, Joanna, Szczerba, Marcelina, Day, Kelly, Ronnholm, Harriet, Kele, Malin, Berdynski, Mariusz, Peplonska, Beata, Fichna, Jakub Piotr, Ilkowski, Jan, Styczynska, Maria, Barczak, Anna, Zboch, Marzena, Filipek-Gliszczynska, Anna, Bojakowski, Krzysztof, Skrzypczak, Magdalena, Ginalski, Krzysztof, Kabza, Michal, Makalowska, Izabela, Barcikowska-Kotowicz, Maria, Wojda, Urszula, Falk, Anna, Zekanowski, Cezary, Wezyk, Michalina, Szybinska, Aleksandra, Wojsiat, Joanna, Szczerba, Marcelina, Day, Kelly, Ronnholm, Harriet, Kele, Malin, Berdynski, Mariusz, Peplonska, Beata, Fichna, Jakub Piotr, Ilkowski, Jan, Styczynska, Maria, Barczak, Anna, Zboch, Marzena, Filipek-Gliszczynska, Anna, Bojakowski, Krzysztof, Skrzypczak, Magdalena, Ginalski, Krzysztof, Kabza, Michal, Makalowska, Izabela, Barcikowska-Kotowicz, Maria, Wojda, Urszula, Falk, Anna, and Zekanowski, Cezary

Abstract

The BRCA1 protein, one of the major players responsible for DNA damage response has recently been linked to Alzheimer's disease (AD). Using primary fibroblasts and neurons reprogrammed from induced pluripotent stem cells (iPSC) derived from familial AD (FAD) patients, we studied the role of the BRCA1 protein underlying molecular neurodegeneration. By whole-transcriptome approach, we have found wide range of disturbances in cell cycle and DNA damage response in FAD fibroblasts. This was manifested by significantly increased content of BRCA1 phosphorylated on Ser1524 and abnormal ubiquitination and subcellular distribution of presenilin 1 (PS1). Accordingly, the iPSC-derived FAD neurons showed increased content of BRCA1(Ser1524) colocalized with degraded PS1, accompanied by an enhanced immunostaining pattern of amyloid-beta. Finally, overactivation of BRCA1 was followed by an increased content of Cdc25C phosphorylated on Ser216, likely triggering cell cycle re-entry in FAD neurons. This study suggests that overactivated BRCA1 could both influence PS1 turnover leading to amyloid-beta pathology and promote cell cycle re-entry-driven cell death of postmitotic neurons in AD.

Published
2018
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34. Association study of cholesterol-related genes in Alzheimer's disease

Author

Wollmer, M., Sleegers, Kristel, Ingelsson, Martin, Zekanowski, Cezary, Brouwers, Nathalie, Maruszak, Aleksandra, Brunner, Fabienne, Huynh, Kim-Dung, Kilander, Lena, Brundin, Rose-Marie, Hedlund, Marie, Giedraitis, Vilmantas, Glaser, Anna, Engelborghs, Sebastiaan, De Deyn, Peter, Kapaki, Elisabeth, Tsolaki, Magdalini, Daniilidou, Makrina, Molyva, Dimitra, Paraskevas, George, Thal, Dietmar, Barcikowska, Maria, Kuznicki, Jacek, Lannfelt, Lars, Van Broeckhoven, Christine, Nitsch, Roger, Hock, Christoph, Papassotiropoulos, Andreas, Wollmer, M., Sleegers, Kristel, Ingelsson, Martin, Zekanowski, Cezary, Brouwers, Nathalie, Maruszak, Aleksandra, Brunner, Fabienne, Huynh, Kim-Dung, Kilander, Lena, Brundin, Rose-Marie, Hedlund, Marie, Giedraitis, Vilmantas, Glaser, Anna, Engelborghs, Sebastiaan, De Deyn, Peter, Kapaki, Elisabeth, Tsolaki, Magdalini, Daniilidou, Makrina, Molyva, Dimitra, Paraskevas, George, Thal, Dietmar, Barcikowska, Maria, Kuznicki, Jacek, Lannfelt, Lars, Van Broeckhoven, Christine, Nitsch, Roger, Hock, Christoph, and Papassotiropoulos, Andreas

Abstract

Alzheimer's disease (AD) is a genetically complex disorder, and several genes related to cholesterol metabolism have been reported to contribute to AD risk. To identify further AD susceptibility genes, we have screened genes that map to chromosomal regions with high logarithm of the odds scores for AD in full genome scans and are related to cholesterol metabolism. In a European screening sample of 115 sporadic AD patients and 191 healthy control subjects, we analyzed single nucleotide polymorphisms in 28 cholesterol-related genes for association with AD. The genes HMGCS2, FDPS, RAFTLIN, ACAD8, NPC2, and ABCG1 were associated with AD at a significance level of P ≤ 0.05 in this sample. Replication trials in five independent European samples detected associations of variants within HMGCS2, FDPS, NPC2, or ABCG1 with AD in some samples (P = 0.05 to P = 0.005). We did not identify a marker that was significantly associated with AD in the pooled sample (n = 2864). Stratification of this sample revealed an APOE-dependent association of HMGCS2 with AD (P = 0.004). We conclude that genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples

Published
2018

35. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

Wang, Sheng, primary, Mandell, Jeffrey D., additional, Kumar, Yogesh, additional, Sun, Nawei, additional, Morris, Montana T., additional, Arbelaez, Juan, additional, Nasello, Cara, additional, Dong, Shan, additional, Duhn, Clif, additional, Zhao, Xin, additional, Yang, Zhiyu, additional, Padmanabhuni, Shanmukha S., additional, Yu, Dongmei, additional, King, Robert A., additional, Dietrich, Andrea, additional, Khalifa, Najah, additional, Dahl, Niklas, additional, Huang, Alden Y., additional, Neale, Benjamin M., additional, Coppola, Giovanni, additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Fernandez, Thomas V., additional, Buxbaum, Joseph D., additional, De Rubeis, Silvia, additional, Grice, Dorothy E., additional, Xing, Jinchuan, additional, Heiman, Gary A., additional, Tischfield, Jay A., additional, Paschou, Peristera, additional, Willsey, A. Jeremy, additional, State, Matthew W., additional, Abdulkadir, Mohamed, additional, Bodmer, Benjamin, additional, Bromberg, Yana, additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Deng, Li, additional, Elzerman, Lonneke, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gilbert, Donald L., additional, Hagstrøm, Julie, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Hoekstra, Pieter J., additional, Hong, Hyun Ju, additional, Huyser, Chaim, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L, additional, Ludolph, Andrea G., additional, Madruga-Garrido, Marcos, additional, Maras, Athanasios, additional, Mir, Pablo, additional, Morer, Astrid, additional, Morris, Montana T, additional, Müller-Vahl, Kirsten, additional, Münchau, Alexander, additional, Murphy, Tara L., additional, Plessen, Kerstin J., additional, Poisner, Hannah, additional, Roessner, Veit, additional, Sanders, Stephan J., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, Thackray, Joshua K., additional, Tübing, Jennifer, additional, Visscher, Frank, additional, Wanderer, Sina, additional, Wang, Sheng, additional, Willsey, A Jeremy, additional, Woods, Martin, additional, Zhang, Yeting, additional, Zinner, Samuel H., additional, Androutsos, Christos, additional, Barta, Csaba, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Georgitsi, Marianthi, additional, Janik, Piotr, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Rizzo, Renata, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tarnok, Zsanett, additional, Tsironi, Vaia, additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Bruun, Ruth D., additional, Budman, Cathy L., additional, Cath, Danielle C., additional, Chouinard, Sylvain, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Davis, Lea K., additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Hirschtritt, Matthew E., additional, Illmann, Cornelia, additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, MacMahon, William M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Pauls, David L., additional, Posthuma, Danielle, additional, Ramensky, Vasily, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan, additional, and Sul, Jae-Hoon, additional

Published
2018
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37. Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer’s Disease

Author

Wezyk, Michalina, primary, Szybinska, Aleksandra, additional, Wojsiat, Joanna, additional, Szczerba, Marcelina, additional, Day, Kelly, additional, Ronnholm, Harriet, additional, Kele, Malin, additional, Berdynski, Mariusz, additional, Peplonska, Beata, additional, Fichna, Jakub Piotr, additional, Ilkowski, Jan, additional, Styczynska, Maria, additional, Barczak, Anna, additional, Zboch, Marzena, additional, Filipek-Gliszczynska, Anna, additional, Bojakowski, Krzysztof, additional, Skrzypczak, Magdalena, additional, Ginalski, Krzysztof, additional, Kabza, Michal, additional, Makalowska, Izabela, additional, Barcikowska-Kotowicz, Maria, additional, Wojda, Urszula, additional, Falk, Anna, additional, and Zekanowski, Cezary, additional

Published
2018
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40. Screening of cholesterol-related genes for association with Alzheimer’s disease

Author

Wollmer, M.A., Sleegers, K., Ingelsson, M., Zekanowski, Cezary, Brouwers, N, Maruszak, A., Brunner, F., Huynh, K.D., Kilander, L., Brundin, R.M., Hedlund, M., Giedraitis, V., Glaser, A., Engelborghs, Sebastiaan, De Deyn, P.p., Kapaki, E., Tsolaki, M., Molyva, D., Clinical sciences, and Neurology

Subjects
Medicine(all), Screening, Alzheimer's disease, cholesterol-related genes
Published
2007

44. Association study of cholesterol-related genes in Alzheimer's disease

Author

Wollmer, M Axel., Sleegers, Kristel, Ingelsson, Martin, Zekanowski, Cezary, Brouwers, Nathalie, Maruszak, Aleksandra, Brunner, Fabienne, Huynh, Kim-Dung, Kilander, Lena, Brundin, Rose-Marie, Hedlund, Marie, Giedraitis, Vilmantas, Glaser, Anna, Engelborghs, Sebastiaan, De Deyn, Peter P., Kapaki, Elisabeth, Tsolaki, Magdalini, Daniilidou, Makrina, Molyva, Dimitra, Paraskevas, George P., Thal, Dietmar R., Barcikowska, Maria, Kuznicki, Jacek, Lannfelt, Lars, Van Broeckhoven, Christine, Nitsch, Roger M., Hock, Christoph, Papassotiropoulos, Andreas, Wollmer, M Axel., Sleegers, Kristel, Ingelsson, Martin, Zekanowski, Cezary, Brouwers, Nathalie, Maruszak, Aleksandra, Brunner, Fabienne, Huynh, Kim-Dung, Kilander, Lena, Brundin, Rose-Marie, Hedlund, Marie, Giedraitis, Vilmantas, Glaser, Anna, Engelborghs, Sebastiaan, De Deyn, Peter P., Kapaki, Elisabeth, Tsolaki, Magdalini, Daniilidou, Makrina, Molyva, Dimitra, Paraskevas, George P., Thal, Dietmar R., Barcikowska, Maria, Kuznicki, Jacek, Lannfelt, Lars, Van Broeckhoven, Christine, Nitsch, Roger M., Hock, Christoph, and Papassotiropoulos, Andreas

Abstract

Alzheimer’s disease (AD) is a genetically complex disorder, and several genes related to cholesterol metabolism have been reported to contribute to AD risk. To identify further AD susceptibility genes, we have screened genes that map to chromosomal regions with high logarithm of the odds scores for AD in full genome scans and are related to cholesterol metabolism. In a European screening sample of 115 sporadic AD patients and 191 healthy control subjects, we analyzed single nucleotide polymorphisms in 28 cholesterol-related genes for association with AD. The genes HMGCS2, FDPS, RAFTLIN, ACAD8, NPC2, and ABCG1 were associated with AD at a significance level of P ≤ 0.05 in this sample. Replication trials in five independent European samples detected associations of variants within HMGCS2, FDPS, NPC2, or ABCG1 with AD in some samples (P = 0.05 to P = 0.005). We did not identify a marker that was significantly associated with AD in the pooled sample (n = 2864). Stratification of this sample revealed an APOE-dependent association of HMGCS2 with AD (P = 0.004). We conclude that genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.

Published
2007
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46. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301LMAPTmutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Author

Sitek, Emilia J., primary, Narozanska, Ewa, additional, Barczak, Anna, additional, Jasinska-Myga, Barbara, additional, Harciarek, Michał, additional, Chodakowska-Zebrowska, Małgorzata, additional, Kubiak, Małgorzata, additional, Wieczorek, Dariusz, additional, Konieczna, Seweryna, additional, Rademakers, Rosa, additional, Baker, Matt, additional, Berdynski, Mariusz, additional, Brockhuis, Bogna, additional, Barcikowska, Maria, additional, Zekanowski, Cezary, additional, Heilman, Kenneth M., additional, Wszolek, Zbigniew K., additional, and Slawek, Jarosław, additional

Published
2012
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47. A novel dominant D109A CRYABmutation in a family with myofibrillar myopathy affects αB-crystallin structure

Author

Fichna, Jakub P., Potulska-Chromik, Anna, Miszta, Przemysław, Redowicz, Maria Jolanta, Kaminska, Anna M., Zekanowski, Cezary, and Filipek, Sławomir

Abstract

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5).

Published
2017
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48. P1-285: Sigma non-opioid intracellular receptor 1 and neurodegeneration: prevalence of mutations and therapeutic implications

Author

Dobson-Stone, Carol, primary, Luty, Agnes, additional, Hallupp, Marianne, additional, Coupland, Kirsten, additional, Brooks, William, additional, Panegyres, Peter, additional, Piguet, Olivier, additional, Broe, G Anthony, additional, Sobow, Tomasz, additional, Zekanowski, Cezary, additional, Halliday, Glenda, additional, Schofield, Peter, additional, and Kwok, John, additional

Published
2011
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49. Intra-Familial Clinical Heterogeneity due to FTLD-U with TDP-43 Proteinopathy Caused by a Novel Deletion in Progranulin Gene (PGRN)

Author

Gabryelewicz, Tomasz, primary, Masellis, Mario, additional, Berdynski, Mariusz, additional, Bilbao, Juan M., additional, Rogaeva, Ekaterina, additional, St. George-Hyslop, Peter, additional, Barczak, Anna, additional, Czyzewski, Krzysztof, additional, Barcikowska, Maria, additional, Wszolek, Zbigniew, additional, Black, Sandra E., additional, and Zekanowski, Cezary, additional

Published
2011
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50. Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

Author

Luty, Agnes A., primary, Kwok, John B.J., additional, Dobson-Stone, Carol, additional, Loy, Clement T., additional, Coupland, Kirsten G., additional, Karlström, Helena, additional, Sobow, Tomasz, additional, Tchorzewska, Joanna, additional, Maruszak, Aleksandra, additional, Barcikowska, Maria, additional, Panegyres, Peter K., additional, Zekanowski, Cezary, additional, Brooks, William S., additional, Williams, Kelly L., additional, Blair, Ian P., additional, Mather, Karen A., additional, Sachdev, Perminder S., additional, Halliday, Glenda M., additional, and Schofield, Peter R., additional

Published
2010
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