Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
about
Mapping gene associations in human mitochondria using clinical disease phenotypesIterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseHuman complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patternsCytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyRespiratory complex III is required to maintain complex I in mammalian mitochondriaMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyMutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyTissue-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 2p16Human mitochondrial complex I in health and diseaseMitochondria and dystonia: the movement disorder connection?Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseMitochondriaSurvey of human mitochondrial diseases using new genomic/proteomic toolsA power law global error model for the identification of differentially expressed genes in microarray dataMitoP2: the mitochondrial proteome database--now including mouse dataMitochondrial cytochrome c oxidase deficiencyMitochondrial disease in childhood: nuclear encodedMitochondrial disorders: challenges in diagnosis & treatmentAnalysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor familyShy1 couples Cox1 translational regulation to cytochrome c oxidase assembly.Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae.Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria.Dual functions of Mss51 couple synthesis of Cox1 to assembly of cytochrome c oxidase in Saccharomyces cerevisiae mitochondriaSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseA missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyRespiratory chain complex I deficiencyCytochrome c oxidase deficiencyMutation screening in patients with isolated cytochrome c oxidase deficiencyMutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencyNoninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryA stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscleMutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyHistorical perspective on mitochondrial medicineRevolution in mitochondrial medicine.Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.
P2860
Q21145361-2F0ABF61-74CC-46F9-B1F0-3A1C6E927477Q21184006-94407A8A-1470-4C18-B98A-31D02A238B31Q24290607-46D77EDA-AD9D-487F-A46C-BF1270D8D79CQ24299371-27E785C8-7C6D-45F9-8E4B-E04458120EE1Q24304313-B80804C9-E215-4717-8B02-B68836004881Q24322645-2DFA9C15-5152-47AC-9D9A-072CF67AAED7Q24328756-A10EDC70-3F3C-47A3-A86B-970649AF39A5Q24338706-95009FA6-F7D5-4C19-B5C3-E8D11DBA2054Q24533500-9A819F77-2286-4EB9-8493-AEABA0523D18Q24534961-D60316E1-6873-4BE1-8BE4-5D0351F9BA05Q24535681-5A932AF2-07AE-4E28-AC63-56DCBC230F83Q24540036-3DEE7084-AFF9-433C-B95C-CE1D1D26521DQ24621005-111B2A91-2058-4430-A4E9-95D7071187B4Q24648969-642611AE-BEA5-4B27-A88E-784DCE78652BQ24671804-9B493A9B-66CA-4A32-A83C-A6C03A868E8AQ24800122-1D3A173B-3453-4F03-9104-BF0EF6450FB6Q24809038-EE926DC6-E710-48B0-8C91-BD4AE9EA74F3Q25256675-9BF1E2FA-2FC7-4AEC-A6A2-2B4B193C8305Q26769015-24853F6B-2899-482C-BB5F-2D4D7F948723Q26820866-B429F586-8979-4083-A358-4740AACD094BQ27000484-B31F917E-0EF2-461B-9ED7-792E5D22D829Q27931313-D925542D-AD0B-4312-ACE5-4D6BD6D55FEDQ27931754-B8FBA756-F438-4D15-9C2C-7D11468E616DQ27933372-000B1115-2C47-4D59-88F5-8884F69C87BCQ27933832-0F21F51D-FA71-4F61-A5E9-F7760CFCC21FQ27935299-E692A732-D7FE-455D-A53D-64A772BFD9C2Q27936564-ECF5E8DF-DDB8-47EF-AC28-6A9572022901Q27938879-E09DC24D-12D5-4402-B46E-ED3628CF8539Q28118095-6E40FD25-8021-414F-9F73-0D8D9C62C19DQ28118731-DEC46635-17D9-493D-A754-478B2CF8EF15Q28189572-92574C71-6899-4189-93B7-D89AC08B2F46Q28189586-E6F748E9-CB0A-446F-953C-1F3B4E91C040Q28204376-36FA23AE-902C-4769-8BB7-1E9574F258F6Q28214123-4561354C-1350-4EDC-B3A2-A0DA4EFB78E1Q28393214-C9B9C1E1-85D1-4194-BC80-606A19EDB8D0Q28509157-89BA2B3D-99A2-48CC-8556-3CBBCE1BD733Q28646237-F928B711-3777-4382-88E0-F42DEB96E329Q28661465-64B77684-0EEB-415D-96E7-741CCCCF4A3BQ33705828-4A9492F1-2D0A-41D3-8949-2A69F34779AFQ33710791-22C0C084-B35E-4D4C-B840-73A15B15AB76
P2860
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@ast
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@en
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@nl
type
label
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@ast
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@en
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@nl
prefLabel
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@ast
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@en
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@nl
P2093
P2860
P50
P356
P1476
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
@en
P2093
C Galimberti
J A Enriquez
K Hoertnagel
M Granatiero
M P Bayona-Bafaluy
P2860
P304
P356
10.1086/302150
P407
P577
1998-12-01T00:00:00Z