Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Joshua Colby"'
Autor:
Joshua Colby, Robert Nicholson, Kathleen M. Dickson, Wayel Orfali, Roland Naef, Ueli Suter, G.Jackson Snipes
Publikováno v:
Neurobiology of Disease, Vol 7, Iss 6, Pp 561-573 (2000)
Missense mutations in the murine peripheral myelin protein-22 gene (Pmp22) underly the neuropathies in the trembler (Tr) and trembler-J (Tr-J) mice and in some humans with Charcot-Marie-Tooth disease. We have generated replication-defective adenoviru
Externí odkaz:
https://doaj.org/article/9d97697b5fe247b3b504f363595f6223
Autor:
Joshua Colby
Publikováno v:
Journal of Intellectual Property Law & Practice. :jpw198
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48d693208b49b8d7f50c48adff700a18
https://doi.org/10.1093/jiplp/jpw198
https://doi.org/10.1093/jiplp/jpw198
Autor:
Roland Naef, G. Jackson Snipes, Joshua Colby, Wayel Orfali, Kathleen M. Dickson, Ueli Suter, Robert Nicholson
Publikováno v:
Neurobiology of Disease, Vol 7, Iss 6, Pp 561-573 (2000)
Missense mutations in the murine peripheral myelin protein-22 gene (Pmp22) underly the neuropathies in the trembler (Tr) and trembler-J (Tr-J) mice and in some humans with Charcot-Marie-Tooth disease. We have generated replication-defective adenoviru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80fc4278ef507567915e2212e66320b1
http://www.sciencedirect.com/science/article/pii/S0969996100903231
http://www.sciencedirect.com/science/article/pii/S0969996100903231
Publikováno v:
Journal of neuropathology and experimental neurology. 62(7)
Mutations in the genes for peripheral myelin protein-22 (PMP22) and myelin protein zero (P 0 ) cause human hereditary neuropathies with varying clinical and pathological phenotypes. In this study, we examine the effects of representative disease-caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb183dd8e14ceb0d256523deb350c4c
https://pubmed.ncbi.nlm.nih.gov/12901701
https://pubmed.ncbi.nlm.nih.gov/12901701
Autor:
D. T. Nguyen, John J.M. Bergeron, David Y. Thomas, G. J. Snipes, Joshua Colby, Kathleen M. Dickson, Eric Chevet, I. Shames
Schwann cell-derived peripheral myelin protein-22 (PMP-22) when mutated or overexpressed causes heritable neuropathies with a previously unexplained “gain-of-function” endoplasmic reticulum (ER) retention phenotype. In wild-type sciatic nerves, P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f934af1b4a76181d4fc22bf37931f6b7
https://europepmc.org/articles/PMC125041/
https://europepmc.org/articles/PMC125041/
Autor:
Munger, Joshua Colby.
Thesis (Ph. D.)--University of Chicago, Committee on Virology, 2001.
Includes bibliographical references. Also available on the Internet.
Includes bibliographical references. Also available on the Internet.
Publikováno v:
Annals of the New York Academy of Sciences. 883
The gain of function phenotypes exhibited by the heterozygous Tr, Tr-J, and CMT1A mutations indicate that these mutations interfere with more than the function of a single PMP22 allele. The identification of proteins that interact with PMP22 and that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc49cc903ec810d42f57b8000726126
https://pubmed.ncbi.nlm.nih.gov/10586240
https://pubmed.ncbi.nlm.nih.gov/10586240