Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Thomas L. Shirley"'
Autor:
Irène Ceballos-Picot, Lionel Mockel, Hyder A. Jinnah, J.C. Lewers, Thomas L. Shirley, Kiyoshi Egami
Publikováno v:
Neuroscience. 152:761-772
A unique sensitivity to specific biochemical processes is responsible for selective vulnerability of midbrain dopamine neurons in several diseases. Prior studies have shown these neurons are susceptible to energy failure and mitochondrial dysfunction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc749d46a800a95509d254d745c236a8
https://doi.org/10.1016/j.neuroscience.2007.10.065
https://doi.org/10.1016/j.neuroscience.2007.10.065
Publikováno v:
Movement Disorders. 23:259-264
Animal models of human disease are important tools for revealing the underlying mechanisms of pathophysiology and developing therapeutic strategies. Several unique mouse calcium channel mutants have been identified with nonepileptic, episodic dyskine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d9cf91aee02d95a5d4272ccb732eddc
https://doi.org/10.1002/mds.21829
https://doi.org/10.1002/mds.21829
Autor:
Alokes Majumdar, Irène Ceballos-Picot, Mairead Kelly, Kiyoshi Egami, Thomas L. Shirley, Hyder A. Jinnah, J. Chris Lewers, Michael M. Seidman
Publikováno v:
Journal of Neurochemistry. 101:841-853
Mutations in the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, a neurodevelopmental disorder characterized by cognitive, neurological, and behavioral abnormalities. Despite d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79cf6ba8a851b8213414579eed688421
https://doi.org/10.1111/j.1471-4159.2007.04472.x
https://doi.org/10.1111/j.1471-4159.2007.04472.x
Publikováno v:
Journal of Neurochemistry. 93:1579-1586
Lesch–Nyhan disease (LND) is a rare disorder caused by a defect of an enzyme in the purine salvage pathway, hypoxanthine phosphoribosyl transferase (HPRT). It is still unknown how the metabolic defect translates into the complex neuropsychiatric ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d58acf609ff4333f792ca991b483e63
https://doi.org/10.1111/j.1471-4159.2005.03151.x
https://doi.org/10.1111/j.1471-4159.2005.03151.x
Publikováno v:
Molecular Therapy. 7(5):572-579
Immunization against extracellular neurotoxic proteins has shown promise in the treatment of several neurodegenerative disorders. We sought to determine whether immunization against mutant huntingtin, the intracellular protein that causes Huntington'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aab6e98e0d87be36d93d8f6aeffe342
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 23(2)
Animal models of human disease are important tools for revealing the underlying mechanisms of pathophysiology and developing therapeutic strategies. Several unique mouse calcium channel mutants have been identified with nonepileptic, episodic dyskine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97a42892f1fdf6806a56971793b428ef
https://pubmed.ncbi.nlm.nih.gov/17999434
https://pubmed.ncbi.nlm.nih.gov/17999434
Autor:
Thomas L, Shirley, J Chris, Lewers, Kiyoshi, Egami, Alokes, Majumdar, Mairead, Kelly, Irene, Ceballos-Picot, Michael M, Seidman, H A, Jinnah
Publikováno v:
Journal of neurochemistry. 101(3)
Mutations in the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, a neurodevelopmental disorder characterized by cognitive, neurological, and behavioral abnormalities. Despite d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9985f2923099619a30fb6f8d08f32ec0
https://pubmed.ncbi.nlm.nih.gov/17448149
https://pubmed.ncbi.nlm.nih.gov/17448149
Autor:
Quan Zhu, Anne Messer, Jean-Michel Lecerf, Peter Amersdorfer, James S. Huston, Thomas L. Shirley, Aleksey G. Kazantsev, David E. Housman
This investigation was pursued to test the use of intracellular antibodies (intrabodies) as a means of blocking the pathogenesis of Huntington's disease (HD). HD is characterized by abnormally elongated polyglutamine near the N terminus of the huntin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e3291e587ec5d2ee43643830e34472
https://europepmc.org/articles/PMC31908/
https://europepmc.org/articles/PMC31908/
Publikováno v:
Nature genetics. 23(4)
Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein. The normal CAG repeat range is 5-3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a23a37dbfb17e52455576668f5ebe91e
https://pubmed.ncbi.nlm.nih.gov/10581038
https://pubmed.ncbi.nlm.nih.gov/10581038
Autor:
Hasan, Youssef1 (AUTHOR) youssef.hasan@qu.edu.qa, Mohammed Al-Hajri, Shaikha1 (AUTHOR) Shaikha.Al-Hajiri@qu.edu.qa, Mehu, Marc2 (AUTHOR)
Publikováno v:
Cogent Psychology. Jan2020, Vol. 7 Issue 1, p1-11. 11p.