Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
about
Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial diseaseMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyCopper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsTissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16Mitochondrial cytochrome c oxidase deficiencyCharting the travels of copper in eukaryotes from yeast to mammalsMitochondrial disorders: challenges in diagnosis & treatmentHuman Sco1 functional studies and pathological implications of the P174L mutantCopper metallochaperonesAnalysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Historical perspective on mitochondrial medicineHuman COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.The in-depth evaluation of suspected mitochondrial diseaseA functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system.Redox susceptibility of SOD1 mutants is associated with the differential response to CCS over-expression in vivo.Mitochondrial copper metabolism and delivery to cytochrome c oxidaseBiogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathyHomocysteine restricts copper availability leading to suppression of cytochrome C oxidase activity in phenylephrine-treated cardiomyocytes.A targetable fluorescent sensor reveals that copper-deficient SCO1 and SCO2 patient cells prioritize mitochondrial copper homeostasis.A Sco protein among the hypothetical proteins of Bacillus lehensis G1: Its 3D macromolecular structure and association with Cytochrome C Oxidase.Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuA in human cytochrome oxidaseCytochrome c oxidase dysfunction in oxidative stress.Mining copper transport genes.Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development.Mitochondrial DNA mutations in human colonic crypt stem cells.Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesisThe genetics of essential metal homeostasis during developmentCOX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS proteinMitochondrial hepatopathies: advances in genetics and pathogenesis.Liver disease in mitochondrial disorders.Function and redox state of mitochondrial localized cysteine-rich proteins important in the assembly of cytochrome c oxidase.Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process
P2860
Q24300850-AE7843E7-EE34-4F58-9942-B0665DC227AAQ24301791-7E232CC7-76BF-4D37-988D-2528A5B76173Q24328756-FACEDF49-7604-4757-8819-3D334F384F9BQ24337613-E235AFAE-99DC-4636-B927-5E58EB83AA99Q24533500-C7DFDB01-0FBE-41ED-B225-5587E3ABD8B4Q24534079-072AD597-1A28-4C17-9601-94E36A6592FBQ24534961-0BA7CE75-D82E-4B7F-91AC-30229D6117CDQ24535681-A4886E99-1315-43A8-8C12-1C2FC1B2A9D7Q26769015-FDCC2488-3393-4328-B2A1-CBEA97CE9AD4Q26863502-47ECFA4A-827D-43F0-BD74-A8D282445B7AQ27000484-3F9F2B86-B942-4DE6-BF8F-69220D220353Q27640878-E425B0EE-6344-44A2-9141-DED65F4B400BQ28275083-637ACD15-AE10-463F-86B4-A5B9F7382DF0Q28589741-B6DA67D3-105E-4B0F-8756-7A07AC7CD429Q28661465-799CB4E3-0FBD-4C15-90D6-01E5D5C5E90CQ33582770-BDA8FDFE-3FCD-4A16-8D2E-533790C22125Q33608204-1E9E35B6-0C91-4CDA-9F9B-42A2EB4A8FA3Q33622307-5F16AD74-C741-482F-AFEF-B433693276BBQ33714643-56052C5D-4A0C-4E2A-8141-E04AEB5A0565Q33827986-EEF57DBC-30BF-4CF1-BD68-DE1647DAA31CQ34220248-0490C79B-68AA-47E0-B167-712CFC8CDC90Q34768367-91B4D34C-F604-4C52-A3F9-460683EC8575Q34789764-605C4326-849C-4958-A272-E57B20DFD07EQ35019411-BCF19DAD-23B9-42C5-BF7B-EE3F3D4E7155Q35123687-932A1A25-1E40-4671-93FD-09C8192BC1BDQ35436157-DBEF090A-7575-475B-AE8B-29FB0CEAB05CQ35687142-140AD137-5F85-458C-9499-97DE78AF9331Q35767457-35633D31-89A3-4B47-8C68-616020ACAEE0Q36218389-29D3AF32-BCFA-4F72-9434-708F0A7DA0ABQ36225141-5FE10048-28B8-4F51-AE2C-337D209DBFAFQ36238864-573A69ED-FBF8-4FD7-90C1-AAE6F35F901AQ36524727-FF4EE2CE-CE75-452A-BA70-1368381B7C2AQ36551271-7EDE27B1-B21F-40AE-B890-295405501B7FQ36631296-235D516F-43A2-4198-8BB8-AB7E975A9B4FQ36680529-A3360903-FF30-4F6B-BA25-C83C53291A7BQ36727229-56FC5291-EA51-421D-B037-2F6868F1A229Q36835622-5F23CDB4-31FE-4351-AC0F-A18B5645172AQ36903648-D3C043BB-E3E2-4FD2-98DC-055DD94961F1Q37028409-97D66672-DEFF-459A-B5E7-83A4B0EA0A54Q37101634-6FF60BA9-9E31-4D80-9CD1-0D792E50646A
P2860
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations of the SCO1 gene in ...... tic failure and encephalopathy
@nl
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@ast
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en-gb
type
label
Mutations of the SCO1 gene in ...... tic failure and encephalopathy
@nl
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@ast
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en-gb
prefLabel
Mutations of the SCO1 gene in ...... tic failure and encephalopathy
@nl
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@ast
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en
Mutations of the SCO1 gene in ...... ic failure and encephalopathy.
@en-gb
P2093
P2860
P50
P1476
Mutations of the SCO1 gene in ...... tic failure and encephalopathy
@en
P2093
P2860
P304
P356
10.1016/S0002-9297(07)62940-1
10.1086/321202
P407
P577
2000-09-28T00:00:00Z