Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kara L Huegel"'
Autor:
Felicity R. Sterling, Jon D'Amico, Alexandria M. Brumfield, Kara L. Huegel, Patricia S. Vaughan, Kathryn Morris, Shelby Schwarz, Michelle V. Joyce, Bill Boggess, Matthew M. Champion, Kevin Maciuba, Philip Allen, Eric Marasco, Grant Koch, Peter Gonzalez, Shannon Hodges, Shannon Leahy, Erica Gerstbauer, Edward H. Hinchcliffe, Kevin T. Vaughan
Publikováno v:
Journal of Cell Science. 136
The pathological accumulation of cholesterol is a signature feature of Niemann–Pick type C (NPC) disease, in which excessive lipid levels induce Purkinje cell death in the cerebellum. NPC1 encodes a lysosomal cholesterol-binding protein, and mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f675f0e3b4dae535683ba480637fd215
https://doi.org/10.1242/jcs.260662
https://doi.org/10.1242/jcs.260662
Autor:
Zachary T Wehrmann, Tyler W Hulett, Kara L Huegel, Kevin T Vaughan, Olaf Wiest, Paul Helquist, Holly Goodson
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e48561 (2012)
Niemann-Pick Type C disease (NPC) is a lethal, autosomal recessive disorder caused by mutations in the NPC1 and NPC2 cholesterol transport proteins. NPC's hallmark symptoms include an accumulation of unesterified cholesterol and other lipids in the l
Externí odkaz:
https://doaj.org/article/165bb543057e4b75a22d6b5eae40c27f
Autor:
Holly V. Goodson, Paul Helquist, Zachary T. Wehrmann, Olaf Wiest, Kevin T. Vaughan, Tyler Hulett, Kara L. Huegel
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e48561 (2012)
PLoS ONE
PLoS ONE
Niemann-Pick Type C disease (NPC) is a lethal, autosomal recessive disorder caused by mutations in the NPC1 and NPC2 cholesterol transport proteins. NPC’s hallmark symptoms include an accumulation of unesterified cholesterol and other lipids in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9c9ad84bd9ed9a19392bb06800cbb6c
https://doi.org/10.1371/journal.pone.0048561
https://doi.org/10.1371/journal.pone.0048561
Autor:
Wehrmann, Zachary T.1, Hulett, Tyler W.1, Huegel, Kara L.2, Vaughan, Kevin T.2, Wiest, Olaf1, Helquist, Paul1, Goodson, Holly1 hgoodson@nd.edu
Publikováno v:
PLoS ONE. Oct2012, Vol. 7 Issue 10, Special section p1-9. 9p.
Publikováno v:
Pain & Central Nervous System Week; 5/12/2023, p729-729, 1p