Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Melisa J. Baptista"'
Autor:
Stephen Hague, Katrina Gwinn-Hardy, Melisa J. Baptista, AB Singleton, Jordi Clarimón, Mark R. Cookson, David Miller
Publikováno v:
Neurology. 62:1835-1838
The authors recently demonstrated that genetic triplication of the SNCA locus causes Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood. Examination of brain tissue showe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e632f8dcdad7773840f6f7d41b29611
https://doi.org/10.1212/01.wnl.0000127517.33208.f4
https://doi.org/10.1212/01.wnl.0000127517.33208.f4
Publikováno v:
The Neuroscientist. 10:63-72
Dominant mutations in the gene for •-synuclein, a small presynaptic protein, can cause Parkinson’s disease. Although there is still substantial debate about the precise mechanisms, •-synuclein is toxic to vulnerable neurons, probably as a resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a1599c947b9af19f92b844bdec2fe0f
https://doi.org/10.1177/1073858403260392
https://doi.org/10.1177/1073858403260392
Autor:
Rili Ahmad, Stephen Hague, Gary R. Klinefelter, Chris McLendon, Jayanth Chandran, Mark R. Cookson, Julia Stadler, Rosa M. Canet-Avilés, David Miller, Melisa J. Baptista, Donald M. Carter, Peng-Peng Zhu, Craig Blackstone
Publikováno v:
Journal of Biological Chemistry. 278:36588-36595
Mutations in a gene on chromosome 1, DJ-1, have been reported recently to be associated with recessive, earlyonset Parkinson's disease. While one mutation is a large deletion that is predicted to produce an effective knockout of the gene, the second
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e89de256c93711b070bd9e66b0e8c8
https://doi.org/10.1074/jbc.m304272200
https://doi.org/10.1074/jbc.m304272200
Autor:
Rili Ahmad, Matthew J. Farrer, John Hardy, Mark R. Cookson, Casey O'Farrell, Sneha Daya, Melisa J. Baptista, David Miller
Publikováno v:
Journal of Neurochemistry. 85:957-968
Abnormal accumulation of alpha-synuclein in Lewy bodies is a neuropathological hallmark of both sporadic and familial Parkinson's disease (PD). Although mutations in alpha-synuclein have been identified in autosomal dominant PD, the mechanism by whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::021a78623674db91bcf3d5be2a9c0045
https://doi.org/10.1046/j.1471-4159.2003.01742.x
https://doi.org/10.1046/j.1471-4159.2003.01742.x
Autor:
Benjamin Wolozin, John Hardy, Casey O'Farrell, Mark R. Cookson, Melisa J. Baptista, Leonard Petrucelli, Kathryn Kehoe, Paul J. Lockhart, Matthew J. Farrer, Peter Choi, Liselot Vink
Publikováno v:
Neuron. 36(6):1007-1019
One hypothesis for the etiology of Parkinson's disease (PD) is that subsets of neurons are vulnerable to a failure in proteasome-mediated protein turnover. Here we show that overexpression of mutant α-synuclein increases sensitivity to proteasome in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa62fcdf0ff302eb211e3d00b71a699
Autor:
Rili Ahmad, Dagmar Ringe, Mark R. Cookson, Mark A. Wilson, Melisa J. Baptista, Gregory A. Petsko, Sourav Bandyopadhyay, David Miller, Chris McLendon, Rosa M. Canet-Avilés
Loss-of-function DJ-1 mutations can cause early-onset Parkinson's disease. The function of DJ-1 is unknown, but an acidic isoform accumulates after oxidative stress, leading to the suggestion that DJ-1 is protective under these conditions. We address
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b673caf5e91202463d977f9d6c3ae2
https://europepmc.org/articles/PMC428480/
https://europepmc.org/articles/PMC428480/
Publikováno v:
Advances in neurology. 94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::79954cfaa832d3c8ddf611b8afb11897
https://pubmed.ncbi.nlm.nih.gov/14509657
https://pubmed.ncbi.nlm.nih.gov/14509657
Publikováno v:
Neuroscience letters. 343(1)
An in-frame deletion (Delta E302/303) in the TorsinA gene has been demonstrated to be responsible for primary torsion dystonia, showing dominant inheritance with reduced penetrance. The Delta E302/303 torsinA mutation forms intracellular ER derived i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f3f0360267555f9c109df4cebf8e7e
https://pubmed.ncbi.nlm.nih.gov/12749984
https://pubmed.ncbi.nlm.nih.gov/12749984
Autor:
Melisa J, Baptista, Casey, O'Farrell, Sneha, Daya, Rili, Ahmad, David W, Miller, John, Hardy, Matthew J, Farrer, Mark R, Cookson
Publikováno v:
Journal of neurochemistry. 85(4)
Abnormal accumulation of alpha-synuclein in Lewy bodies is a neuropathological hallmark of both sporadic and familial Parkinson's disease (PD). Although mutations in alpha-synuclein have been identified in autosomal dominant PD, the mechanism by whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::340fbf303d9d8c0bbc3d6610e53c0f02
https://pubmed.ncbi.nlm.nih.gov/12716427
https://pubmed.ncbi.nlm.nih.gov/12716427