Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Janet E. Davies"'
Autor:
Janet E. Davies, David C. Rubinsztein
Publikováno v:
Human Molecular Genetics
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene. In unaffected individuals, (GCG)(6) encodes the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a914d0bb3eb6cdaf102216c369190c
http://europepmc.org/articles/PMC3043663
http://europepmc.org/articles/PMC3043663
Autor:
Sovan Sarkar, Viktor I. Korolchuk, Brinda Ravikumar, Ashley R. Winslow, Janet E. Davies, Dunecan Massey, Shouqing Luo, Usha Narayanan, Zeyn W. Green-Thompson, Moisés García-Arencibia, Benjamin R. Underwood, Farah H. Siddiqi, Maike Lichtenberg, Maria Jimenez-Sanchez, Fiona M. Menzies, David C. Rubinsztein, Kevin Moreau, Maurizio Renna, Marie Futter
Publikováno v:
Physiological Reviews. 90:1383-1435
(Macro)autophagy is a bulk degradation process that mediates the clearance of long-lived proteins and organelles. Autophagy is initiated by double-membraned structures, which engulf portions of cytoplasm. The resulting autophagosomes ultimately fuse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::316b80a8b46b28f6911271c0c17edd0c
https://doi.org/10.1152/physrev.00030.2009
https://doi.org/10.1152/physrev.00030.2009
Autor:
Andrea Venema, Arnaud Ferry, Christophe Hourdé, Vincent Mouly, Simon Heales, Capucine Trollet, Elisa Negroni, Vered Raz, Keith Foster, George Dickson, Iain P. Hargreaves, Silvère M. van der Maarel, David C. Rubinsztein, Janet E. Davies, Peter A C 't Hoen, Alban Vignaud, Martin A. Baraibar, Gillian Butler-Browne, Seyed Yahya Anvar
Publikováno v:
Human Molecular Genetics; Vol 19
Human Molecular Genetics, 19(11), 2191-2207
Human Molecular Genetics, 19(11), 2191-2207
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::675c6604347b7e27b720bb107353cd30
https://doi.org/10.1093/hmg/ddq098
https://doi.org/10.1093/hmg/ddq098
Autor:
Janet E. Davies, Sharon Leighton
Publikováno v:
Drug Information Journal. 43:637-654
Managers from 163 European medical information departments in 30 countries completed a web-based 23-question survey. They were asked about demographics (country, company, team size, name, and reporting lines), responsibilities, training needs, and co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a43998575449be85a753c9d0d15427f8
https://doi.org/10.1177/009286150904300602
https://doi.org/10.1177/009286150904300602
Autor:
Janet E. Davies, David C. Rubinsztein
Publikováno v:
Journal of Medical Genetics. 43:893-896
Codon reiteration disorders are caused by abnormal expansions of either polyglutamine or polyalanine tracts within the coding region of a protein. These mutations impair normal protein folding, resulting in aggregate formation in the affected tissues
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be8cae54af66e76047d4aa6a5c2c8b2
https://doi.org/10.1136/jmg.2006.044222
https://doi.org/10.1136/jmg.2006.044222
Publikováno v:
Journal of Cell Biology. 169:647-656
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded polyglutamine (polyQ) tract in the huntingtin (htt) protein. Mutant htt toxicity is exposed after htt cleavage by caspases and other proteases release NH2-terminal fragme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3b2c036d52e6b6ae8be9ada26b3721a
https://doi.org/10.1083/jcb.200412071
https://doi.org/10.1083/jcb.200412071
Autor:
Douglas F. Easton, Lourdes Garcia Oroz, Brinda Ravikumar, Janet E. Davies, Shouqing Luo, Cahir J. O'Kane, Francesco Scaravilli, Zdenek Berger, Rainer Duden, David C. Rubinsztein, Coralie Vacher
Publikováno v:
Nature Genetics. 36:585-595
Huntington disease is one of nine inherited neurodegenerative disorders caused by a polyglutamine tract expansion. Expanded polyglutamine proteins accumulate abnormally in intracellular aggregates. Here we show that mammalian target of rapamycin (mTO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c3fd8ba15a623fca8a0895b35f5a799
https://doi.org/10.1038/ng1362
https://doi.org/10.1038/ng1362
Publikováno v:
Journal of Neuroendocrinology. 15:42-50
We have introduced transgenes into rats with a view to defining genomic regions that mediate the cell-specific and physiological regulation of the vasopressin gene. These transgenes consist of the rat vasopressin structural gene with a reporter inser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::641daae94ef779b01d7706b6b53e0311
https://doi.org/10.1046/j.1365-2826.2003.00865.x
https://doi.org/10.1046/j.1365-2826.2003.00865.x
Autor:
David Murphy, Janet E. Davies
Publikováno v:
Journal of Neuroendocrinology. 14:629-637
We have tested the hypothesis that familial neurohypophysial diabetes insipidus (FNDI) is initiated by a process of autophagy. FNDI is a dominant, progressive inherited disorder characterized by pronounced drinking and urination caused by loss of sec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8844dfaa4150b84d0be3fb34d526a298
https://doi.org/10.1046/j.1365-2826.2002.00822.x
https://doi.org/10.1046/j.1365-2826.2002.00822.x
Publikováno v:
The FASEB Journal. 19:1021-1023
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a progressive, inherited neurodegenerative disorder that presents as polydipsia and polyuria as a consequence of a loss of secretion of the antidiuretic hormone vasopressin (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58c67589397e0365b0ed1b99222c5fb0
https://doi.org/10.1096/fj.04-3162fje
https://doi.org/10.1096/fj.04-3162fje