Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Kishore R. Kumar"'
Autor:
Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-5 (2023)
Abstract The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of al
Externí odkaz:
https://doaj.org/article/8b77c4b847d04eeb869510a018f48bee
Autor:
Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/3f7a6c99f648490596d129df6135734f
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
SPG7 is the most common form of autosomal recessive hereditary spastic paraplegia (HSP). There is a lack of HSP-SPG7 human neuronal models to understand the disease mechanism and identify new drug treatments. We generated a human neuronal model of HS
Externí odkaz:
https://doaj.org/article/57be7d5bf81b48b8b7b29c84929cba12
Autor:
Gautam Wali, Sue-Faye Siow, Erandhi Liyanage, Kishore R. Kumar, Alan Mackay-Sim, Carolyn M. Sue
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
HSP-SPAST is the most common form of hereditary spastic paraplegia (HSP), a neurodegenerative disease causing lower limb spasticity. Previous studies using HSP-SPAST patient-derived induced pluripotent stem cell cortical neurons have shown that patie
Externí odkaz:
https://doaj.org/article/3201b17da6cb45dfba36c4145e81a41f
Autor:
Sue-Faye Siow, Dennis Yeow, Laura I. Rudaks, Fangzhi Jia, Gautam Wali, Carolyn M. Sue, Kishore R. Kumar
Publikováno v:
Genes, Vol 14, Iss 9, p 1756 (2023)
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. There is no disease-modifying treatment currently available. Therefore, standardized, validated outcome measures to facilitate clinical trials are urgently nee
Externí odkaz:
https://doaj.org/article/01eb20aafcb3495a82b1494d61592a60
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-20 (2021)
Abstract Background Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Hunting
Externí odkaz:
https://doaj.org/article/edda3574e96d4cdba97a0cfac1ba0d79
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia. Methods The splicing impact of c.507
Externí odkaz:
https://doaj.org/article/c5bd7cb544b846f1b7533864122581bf
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2021)
The underlying pathophysiology of Parkinson's disease is complex, but mitochondrial dysfunction has an established and prominent role. This is supported by an already large and rapidly growing body of evidence showing that the role of mitochondrial (
Externí odkaz:
https://doaj.org/article/86a2b4a2d5e4467dbab79b418ae59064
Autor:
Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 46-51 (2018)
Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic
Externí odkaz:
https://doaj.org/article/200e2d28977c4ba3868988de70ca5ca7
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Background: Hereditary Spastic Paraplegia (HSP) is a slowly progressive neurodegenerative disorder with no disease modifying treatment. Potential therapeutic approaches are emerging and large-scale clinical drug trials for patients with HSP are immin
Externí odkaz:
https://doaj.org/article/7e16f99e41b34dcd98c897ea14df51ce