Npc1 and cancer
Web1 okt. 2024 · Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes … Web2000). A membrane protein called NPC1 performs a job in late endosomes and lysosomes (Pallottini and Pfrieger, 2024). As a homolog of NPC1, NPC1L1 likewise possesses a …
Npc1 and cancer
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WebNPM1 has been identified to be necessary for normal cellular functions, and its altered regulation by overexpression, mutation, translocation, loss of function, or … Web7 apr. 2024 · Niemann-Pick disease type C (NP-C) is a genetic lysosomal disorder associated with progressive neurodegenerative phenotypes. Its therapeutic options are very limited. Here, we show that lithium treatment improved ataxia and feeding phenotypes, attenuated cerebellar inflammation and degeneration, and extended survival in Npc1 …
WebSummary of NPC1 (SLC65A1) expression in human tissue. General cytoplasmic expression. We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again. ... Cancer type Category. Cluster ... Web5 jan. 2015 · NPC1 is involved in the intracellular transport of cholesterol to post-lysosomal destinations, and loss-of function mutations in the NPC1 gene are associated with Niemann-Pick disease, type C, in which lipid products accumulate in late endosomes and lysosomes. Patients with this disease present with neurological symptoms and liver cholestasis.
Web17 jun. 2024 · Niemann–Pick type C is caused by mutations in either genes NPC1 (95%) or NPC2 (5%). More than 300 disease-causing mutations have been identified so far in both genes, including indel, missense, ... M. Computational Analysis of Structural Variation in Cancer Genomes. Methods Mol. Biol. 2024, 1878, 65–83. [Google Scholar] WebNPC1/NPC2 is a crucial pathway of intracellular cholesterol trafficking. While the protein NPC2, the product of the NPC2 gene, is a soluble cholesterol-binding luminal protein, NPC1 is an anchored transmembrane glycoprotein [ 15, 16, 17 ].
WebIntroduction. Recent studies show that lung adenocarcinoma (LUAD) is the second most diagnosed cancer and the leading cause of cancer death worldwide ().Despite improved …
Web7 okt. 2008 · NPC1 is a multispanning protein that is localized to the limiting membrane of LEs. It contains three lumenally oriented domains including an N-terminal domain (NTD). … the battle of mexico city ratmWebMy research focuses on lysosomal storage diseases (LSDs) and therapeutic interventions to improve patient symptoms. I’ve worked on Niemann-Pick type C1 (NPC1), Chediak … the battle of messines 1917Web8 feb. 2024 · In NPC1-defective cells, mTORC1 signaling is elevated compared to wild-type cells and is immune to inhibition by cholesterol-depleting agents. mTORC1 dysregulation … the battle of metzWebWe further map the binding site of itraconazole to the sterol-sensing domain of NPC1 using mutagenesis, competition with U18666A, and molecular docking. Finally, we … thehapper snookerWebNPC1 (SLC65A1) protein expression summary. This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracel … the battle of messines 1914Web9 jan. 2024 · Niemann–Pick C1 (NPC1), a protein coded by the NPC1 gene, locates in the membrane of late endosomes/lysosomes and regulates the efflux of cholesterol and fatty acids from these vesicles. NPC1 loss-of-function mutations cause NPC1 disease, a rare autosomal recessive lipid storage neurodegenerative disorder characterized by an … the happen survey for pupilsWeb21 jul. 2024 · In the context of cancer, NPC1 activity and function are understudied. Here, we report that NPC1 may serve as a potential therapeutic target in TNBC, where it is … the battle of menin road ridge