Results 21 to 30 of about 13,156 (213)

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. [PDF]

PLoS ONE, 2012
Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical ...
Stephanie M Cologna, Xiao-Sheng Jiang, Peter S Backlund, Celine V M Cluzeau, Michelle K Dail, Nicole M Yanjanin, Stephan Siebel, Cynthia L Toth, Hyun-sik Jun, Christopher A Wassif, Alfred L Yergey, Forbes D Porter   +11 more
doaj   +1 more source

Flux of Fatty Acids through NPC1 Lysosomes [PDF]

Journal of Biological Chemistry, 2005
Niemann-Pick type C (NPC) is an autosomal recessive lipid storage disorder characterized by lysosomal accumulation of cholesterol and gangliosides resulting from a defect in intracellular lipid trafficking. The NPC1 gene encodes a 1278-amino acid integral membrane protein involved in the sub-cellular trafficking of lipids. The exact biological function
Jessica, Passeggio, Laura, Liscum
openaire   +2 more sources

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

Arabidopsis non-specific phospholipase C1: Characterisation and its involvement in response to heat stress

Frontiers in Plant Science, 2015
The Arabidopsis non-specific phospholipase C (NPC) protein family is encoded by the genes NPC1 – NPC6. It has been shown that NPC4 and NPC5 possess phospholipase C activity; NPC3 has lysophosphatidic acid phosphatase activity. NPC3, 4 and 5 play roles in
Zuzana eKrčková, Zuzana eKrčková, Jitka eBrouzdová, Michal eDaněk, Daniela eKocourková, Dominique eRainteau, Eric eRuelland, Eric eRuelland, Olga eValentova, Přemysl ePejchar, Jan eMartinec   +10 more
doaj   +1 more source

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]

, 2016
PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik, CA Wassif, Daniel S. Ory, DE Sleat, DM Jordan, F Chang, FD Porter, GR Oliver, H Börnig, H Jahnova, HJ Kwon, HR Davis Jr, IA Adzhubei, Igor B. Zhulin, JA Tennessen, JD Retief, JE Dickerson, JM White, K Katoh, KA King, M Lynch, M Stampfer, MC Patterson, MT Vanier, MT Vanier, MT Vanier, NO Stitziel, O Adebali, Ogun Adebali, PC Ng, PC Ng, RD Finn, S Castellana, S Guindon, S Nusca, SB Ng, SF Altschul, SH Katsanis, SR Sunyaev, U Omasits, X Jiang, X Yan, Y Choi, Z Wang   +43 more
core   +3 more sources

Identification of lysosomal Npc1‐binding proteins: Cathepsin D activity is regulated by NPC1

PROTEOMICS, 2015
Niemann–Pick type C (NPC) disease is an inherited lysosomal storage disorder, characterized by severe neurodegeneration. It is mostly produced by mutations in the NPC1 gene, encoding for a protein of the late endosomes/lysosomes membrane, involved in cholesterol metabolism. However, the specific role of this protein in NPC disease still remains unknown.
J. MACIAS-VIDAL, M. GUERRERO-HERNANDEZ, J. ESTANYOL, C. AGUADO, E. KNECHT, M. COLL, O. BACHS   +6 more
openaire   +4 more sources

Ebolavirus Glycoprotein Directs Fusion through NPC1 ⁺ Endolysosomes [PDF]

Journal of Virology, 2016
ABSTRACT Ebolavirus, a deadly hemorrhagic fever virus, was thought to enter cells through endolysosomes harboring its glycoprotein receptor, Niemann-Pick C1. However, an alternate model was recently proposed in which ebolavirus enters through a later NPC1-negative endosome that contains two-pore Ca 2 ...
James A, Simmons, Ryan S, D'Souza, Margarida, Ruas, Antony, Galione, James E, Casanova, Judith M, White   +5 more
openaire   +2 more sources

Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann–Pick Type C disease models

Molecular Genetics and Metabolism Reports, 2014
Hydroxypropyl-β-cyclodextrin (HPBCD) is an attractive drug candidate against Niemann–Pick Type C (NPC) disease. However, the safety of HPBCD treatment for NPC patients remains to be elucidated.
Yuta Tanaka, Yoichi Ishitsuka, Yusei Yamada, Yuki Kondo, Toru Takeo, Naomi Nakagata, Taishi Higashi, Keiichi Motoyama, Hidetoshi Arima, Muneaki Matsuo, Katsumi Higaki, Kousaku Ohno, Tetsumi Irie   +12 more
doaj   +1 more source

A hopeful therapy for Niemann-Pick C diseases [PDF]

, 2017
Not abstract ...
Erickson, Robert P., Fiorenza, Maria Teresa   +1 more
core   +1 more source

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source