Results 121 to 130 of about 12,273 (193)

Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]

, 2006
Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline, Hiol, Abel, Miolan, Jean-Pierre, Niel, Jean-Pierre   +3 more
core   +1 more source

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

The metabolism of APP protein in lysosomal storage disorders [PDF]

, 2009
Nedavna istraživanja su pokazala da povišena razina kolesterola može mijenjati cijepanje prekursora proteina amiloid-beta (APP) i utjecati na nakupljanje peptida amiloid-beta (Aβ), glavne patološke značajke Alzheimerove bolesti (AB).
Posavec, Melanija
core   +1 more source

Lactobacillus plantarum CUL66 can impact cholesterol homeostasis in Caco-2 enterocytes [PDF]

, 2016
Hypercholesterolemia drives the development of cardiovascular disease, the leading cause of mortality in western society. Supplementation with probiotics that interfere with cholesterol metabolism may provide a contribution to disease prevention ...
Calvente, D. Lama, Garaiova, I., Michael, D. R., Moss, Joe W. E., Plummer, S. F., Ramji, Dipak   +5 more
core   +1 more source

Sterol-binding proteins in late endosomes : Regulation of endosome motility and lipid metabolism [PDF]

, 2011
Despite its bad reputation in the mass media, cholesterol is an indispensable constituent of cellular membranes and vertebrate life. It is, however, also potentially lethal as it may accumulate in the arterial intima causing atherosclerosis or elsewhere ...
Uronen, Riikka-Liisa
core  

A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1. [PDF]

Proteomics, 2023
Li W, Pergande MR, Crutchfield CA, Searle BC, Backlund PS, Picache JA, Burkert K, Yanjanin-Farhat NM, Blank PS, Toth CL, Wassif CA, Porter FD, Cologna SM.   +12 more
europepmc   +1 more source

Niemann-Pick disease type C1 (NPC1) [PDF]

Science-Business eXchange, 2011
openaire   +2 more sources

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2023
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +10 more
europepmc   +1 more source

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology. [PDF]

Int J Mol Sci, 2022
Cawley NX, Lyons AT, Abebe D, Luke R, Yerger J, Telese R, Wassif CA, Bailey-Wilson JE, Porter FD.   +8 more
europepmc   +1 more source

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2021
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Navid F, Wassif CA, Cawley NX, Porter FD.   +7 more
europepmc   +1 more source