Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parkinsonism. In this study we investigated the expression and localization of RAB39B (RNA and protein) in mouse bra
Externí odkaz:
https://doaj.org/article/027707985bc448319d5f94d16f51b9b5
Autor:
Yujing Gao, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Paul J. Lockhart
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, an
Externí odkaz:
https://doaj.org/article/36556d5a724643878e9ca318c6408758
Autor:
David Finkelstein, Mustapha Oulad-Abdelghani, Kiymet Bozaoglu, Catriona McLean, Nicolas Charlet-Berguerand, Yujing Gao, Paul Q. Thomas, Sarah E.M. Stephenson, Paul J. Lockhart, Gabrielle R. Wilson
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
Molecular Brain
Molecular Brain, BioMed Central, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩
Molecular Brain
Molecular Brain, BioMed Central, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩
Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parkinsonism. In this study we investigated the expression and localization of RAB39B (RNA and protein) in mouse brain tissue
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(4)
Background Pathogenic variants in the small GTPase Ras Analogue in Brain 39b (RAB39B) have been linked to the development of early-onset parkinsonism. The study was aimed at delineating the clinical and neuropathological features associated with a pr
Autor:
Yujing Gao, Sarah E.M. Stephenson, Kiymet Bozaoglu, Paul J. Lockhart, Gabrielle R. Wilson, Matthew J. Farrer
Publikováno v:
Movement Disorders. 33:196-207
The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parkinson's disease (PD) has highlighted the emerging role of protein trafficking in disease pathogenesis. Ras analog in brai
Autor:
Ruili Li, Jessica R. Riseley, Tim D. Aumann, Jeffrey R. Mann, Sarah E.M. Stephenson, Doris Tomas, Juliet M. Taylor, Paul J. Lockhart
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Mutations in PARK2 (parkin) can result in Parkinson’s disease (PD). Parkin shares a bidirectional promoter with parkin coregulated gene (PACRG) and the transcriptional start sites are separated by only ~200 bp. Bidirectionally regulated genes have
Publikováno v:
Brain Research. 1201:177-186
Parkin Co-Regulated Gene (PACRG) is a novel gene that is oriented in a head-to-head array with parkin, and expression of the two genes is regulated by a shared bi-directional promoter. Mutations in parkin are the most common cause of early-onset auto
Publikováno v:
Annals of the New York Academy of Sciences. 991:311-314
Autor:
Jing Xu, Gloria E. Meredith, Jinghua Jin, Leonard N. Chen, Paul J. Lockhart, Jing Zhang, Yong Zhou, Feng-Shiun Shie
Publikováno v:
Molecular Brain Research. 134:119-138
The mechanisms underlying Parkinson's disease (PD) and Lewy body (LB) formation, a pathological hallmark of PD, are incompletely understood; however, mitochondrial dysfunction is likely to be at least partially responsible. To study the processes tha
Autor:
Demetrius M. Maraganore, Andrew Singleton, Matthew J. Farrer, Rohan de Silva, Timothy G. Lesnick, Dena G. Hernandez, Paul J. Lockhart, John Hardy, Mariza de Andrade, Andrew B. West
Publikováno v:
Human Molecular Genetics. 10:1847-1851
We report haplotype analysis of the alpha-synuclein gene in Parkinson's disease (PD), extending earlier reports of an association with a polymorphism within the gene promoter. This analysis showed significant differences in haplotypes between PD case