2014
Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform
Movassagh M, Mudvari P, Kokkinaki M, Edwards N, Golestaneh N, Horvath A. Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform. Journal Of Clinical Bioinformatics 2014, 4: 14. DOI: 10.1186/2043-9113-4-14.Peer-Reviewed Original ResearchRetinal pigment epitheliumNPC1 proteinLow-grade brain tumorsVariant nucleotidesFunctional NPC1 proteinTranscriptome-wide searchParallel sequencing technologiesCommon synonymous variantSingle sequencing readExon-intron boundariesDiploid genomeAllelic phaseAlternative splicingHuman transcriptomeSynonymous substitutionsBreast cancerCellular phenotypesBrain tumorsSequencing technologiesPigment epitheliumColon cancerAutosomal recessive mannerCholesterol traffickingRetinal degenerationRNA features
2009
Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking
Harrison KD, Miao RQ, Fernandez-Hernándo C, Suárez Y, Dávalos A, Sessa WC. Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking. Cell Metabolism 2009, 10: 208-218. PMID: 19723497, PMCID: PMC2739452, DOI: 10.1016/j.cmet.2009.07.003.Peer-Reviewed Original ResearchConceptsNiemann-Pick type C2 (NPC2) proteinIntracellular cholesterol traffickingC2 proteinCholesterol traffickingEndoplasmic reticulumTwo-hybrid screenC-terminal domainCellular rolesIntracellular cholesterol accumulationSterol sensingProtein stabilityN-terminusNgBRProteinProtein levelsNPC2 mutationsCholesterol accumulationGenetic deficiencyTraffickingRNAiNPC2TerminusBiologyBaitReticulum
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply