Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Gautam, Wali"'
Autor:
Gurusidheshwar M. Wali, Gautam Wali
Publikováno v:
Annals of Movement Disorders, Vol 7, Iss 1, Pp 48-52 (2024)
Externí odkaz:
https://doaj.org/article/b74efbbf102b4016984d951d2a5f37b6
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
Publikováno v:
STAR Protocols, Vol 4, Iss 2, Pp 102325- (2023)
Summary: High-throughput imaging allows in vitro assessment of neuron morphology for screening populations under developmental, homeostatic, and/or disease conditions. Here, we present a protocol to differentiate cryopreserved human cortical neuronal
Externí odkaz:
https://doaj.org/article/9d2a0e230faa47f3ac875665ccb5c021
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
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract A central need for neurodegenerative diseases is to find curative drugs for the many clinical subtypes, the causative gene for most cases being unknown. This requires the classification of disease cases at the genetic and cellular level, an
Externí odkaz:
https://doaj.org/article/8ca07526bb474194b884a6feb2839f05
Autor:
Gautam Wali, Kishore Raj Kumar, Erandhi Liyanage, Ryan L. Davis, Alan Mackay-Sim, Carolyn M. Sue
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression. Mitochondrial function has been studied in models
Externí odkaz:
https://doaj.org/article/0243903622554af0ba6ae31f997fd56e
Autor:
Gautam Wali, Erandhi Liyanage, Nicholas F. Blair, Ratneswary Sutharsan, Jin-Sung Park, Alan Mackay-Sim, Carolyn M. Sue
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously
Externí odkaz:
https://doaj.org/article/80b5c527c6884da192ed4da05652fedf
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
Autor:
Yongjun Fan, Gautam Wali, Ratneswary Sutharsan, Bernadette Bellette, Denis I. Crane, Carolyn M. Sue, Alan Mackay-Sim
Publikováno v:
Biology Open, Vol 3, Iss 6, Pp 494-502 (2014)
Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutat
Externí odkaz:
https://doaj.org/article/0e25420270d44897989da33cb4a75dfe
Autor:
Greger Abrahamsen, Yongjun Fan, Nicholas Matigian, Gautam Wali, Bernadette Bellette, Ratneswary Sutharsan, Jyothy Raju, Stephen A. Wood, David Veivers, Carolyn M. Sue, Alan Mackay-Sim
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 2, Pp 489-502 (2013)
SUMMARY Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is
Externí odkaz:
https://doaj.org/article/7aa64347ec6c4c11a36f50021d7c5f31