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Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and ...
Niemann-Pick C disease is a rare neurodegenerative, lysosomal storage disease caused by accumulation of unesterified cholesterol.
Histone deacetylase inhibitors correct the cholesterol ... - bioRxiv
However, in contrast to NPC1 deficiency, NPC2 absence did not lead to a noticeable late endosomal block of lipid trafficking to the lysosome.
Integrated analysis of transcriptome and proteome reveals the key ...
... NPC2 (4% des cas). Son incidence est évaluée à 1/89 000 ... T. D.. (2018). A Genetic Study of Psychosis in Huntington's Disease ...
Expanded complement of Niemann-Pick type C2-like protein genes ...
The predicted predominance of ovary gene expression and assignment of directly relevant Gene Ontology classes suggests a powerful utility of ...
Protein Replacement Therapy Partially Corrects the Cholesterol ...
In mammals, it has been shown that NPC1 and NPC2 in the Niemann?Pick C-type protein family are important players in sterol metabolism and ...
Implication du récepteur LSR (lipolysis stimulated lipoprotein ...
Ovary) (Desnick and Schuchman, 2002; Ioannou et al., 1992). Cependant, une telle thérapie ne soigne pas les symptômes affectant le système ...
Revue de la littérature des causes organiques de premier épisode ...
Niemann-Pick type C (NPC) proteins are essential for sterol homeostasis, believed to drive sterol integra- tion into the lysosomal membrane ...
NPC Intracellular Cholesterol Transporter 1 Regulates Ovarian ...
The disease is caused by mutations in one of two genes, Niemann-Pick disease, type. C1 ( NPC1), which accounts for 95% of cases, or Niemann-. Pick disease, type ...
Etude de p76, une nouvelle protéine mannose-6-phosphate
Abstract. Background: Macrobrachium nipponense is an economically important species of freshwater shrimp in China. Unlike other marine shrimps, the ovaries ...
Tissue-expression profiles unveils the gene interaction of ... - bioRxiv
mutations in NPC1 and NPC2 genes. NPC1 and NPC2 mutations result in cholesterol accumulation in. LEs/LYs which is linked to the blockage of these organelles ...
THÈSE - Thomas DI MATTIA - Université de Strasbourg
Lysosomal cholesterol egress requires two proteins, NPC1 and NPC2, whose defects are responsible for Nie- mann-Pick disease type C (NPC).
Identification et caractérisation de la protéine MOSPD2, un bâtisseur ...
We studied the trafficking of sterols, lipids and proteins in. Niemann-Pick type C (NPC) cells. The NPC is an inherited.