2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Desai R, Frazier A, Durigon R, Patel H, Jones A, Rosa I, Lake N, Compton A, Mountford H, Tucker E, Mitchell A, Jackson D, Sesay A, Di Re M, van den Heuvel L, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner A, Andrews P, Smeitink J, Spelbrink J, Heales S, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt I, Thorburn D, Spinazzola A. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 2017, 140: 1595-1610. PMID: 28549128, PMCID: PMC5445257, DOI: 10.1093/brain/awx094.Peer-Reviewed Original ResearchConceptsATAD3A geneHigh-throughput sequencing technologyIntegration of mitochondriaMitochondrial DNA organizationCholesterol homeostasisCellular cholesterol homeostasisSingle nucleotide polymorphism arrayMitochondrial DNA abnormalitiesNiemann-Pick type C diseaseNucleotide polymorphism arrayWhole-exome sequencing dataDNA organizationExome sequencing dataMitochondrial DNACausal genesCholesterol metabolismGenomic analysisGenomic rearrangementsSequencing technologiesHigh homologySequencing dataType C diseaseDrug-induced perturbationsGene cluster deletionsGenes
2000
Determinants of NPC1 Expression and Action: Key Promoter Regions, Posttranscriptional Control, and the Importance of a “Cysteine-Rich” Loop
Watari H, Blanchette-Mackie E, Dwyer N, Watari M, Burd C, Patel S, Pentchev P, Strauss J. Determinants of NPC1 Expression and Action: Key Promoter Regions, Posttranscriptional Control, and the Importance of a “Cysteine-Rich” Loop. Experimental Cell Research 2000, 259: 247-256. PMID: 10942596, DOI: 10.1006/excr.2000.4976.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCarcinoma, HepatocellularCarrier ProteinsCHO CellsCricetinaeCysteineGene Expression RegulationHumansIntracellular Signaling Peptides and ProteinsLysosomesMembrane GlycoproteinsNiemann-Pick C1 ProteinNiemann-Pick DiseasesPlasmidsProgesteronePromoter Regions, GeneticProtein Structure, TertiaryProteinsRNA Processing, Post-TranscriptionalRNA, MessengerTransfectionTumor Cells, CulturedZincConceptsNiemann-Pick type C diseaseCholesterol trafficking defectType C diseaseC diseaseNPC1 expressionTrafficking defectsNPC1 genePromoter activityMajor transcription initiation siteBase pairsLate endosomal compartmentsTranscription initiation siteTranscription start siteI1061T mutationKey promoter regionChinese hamster cell lineProgesterone-treated cellsHamster cell linesNPC1 mRNA levelsProgesterone-induced increaseZinc-binding activityProtein synthesis inhibitorCT60 cellsThreonine residuesPosttranscriptional regulation
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply