Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
about
J protein mutations and resulting proteostasis collapseMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesThe reducible complexity of a mitochondrial molecular machineRole of Magmas in protein transport and human mitochondria biogenesisThe impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaMonolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeThe mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperonesThe Role of Cardiolipin in Cardiovascular HealthGenetics of Human and Canine Dilated CardiomyopathyA splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in miceBarth syndrome.A neurodegenerative perspective on mitochondrial optic neuropathiesTim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stabilityDefining functional classes of Barth syndrome mutation in humansDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesCellular functions of cardiolipin in yeastCardiolipin remodeling: a regulatory hub for modulating cardiolipin metabolism and functionMolecular species composition of plant cardiolipin determined by liquid chromatography mass spectrometryHistorical perspective on mitochondrial medicineMitochondria: in sickness and in healthOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMethylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.The 3-methylglutaconic acidurias: what's new?Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.Genome-wide association for sensitivity to chronic oxidative stress in Drosophila melanogasterThe Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaThe biology of proteostasis in aging and disease.Mitochondrial biogenesis and turnover.Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.Costeff optic atrophy syndrome: new clinical case and novel molecular findings.The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotypeClinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.Metabolic annotation of 2-ethylhydracrylic acidA population-based study of autosomal-recessive disease-causing mutations in a founder populationBarth syndrome, a human disorder of cardiolipin metabolism.Genetic determinants of fibro-osseous lesions in aged inbred mice.Mitochondrial protein import and human health and disease.
P2860
Q21129474-ED4630E4-7EB8-4D23-B693-64908E1897DCQ21296841-4FD4732E-4BBA-4D3C-BBAB-0F4BE2823D9EQ22066280-09561985-7A0C-4C67-BF5F-35CE9C7220B2Q24294308-8C6F7844-2821-409A-9620-73FE93D24743Q24296652-8371330B-AEDE-453D-A20C-931A23031144Q24298288-25F59E74-B7F8-40C4-9A56-F2C83A781199Q24309210-42D20AD5-72D9-4511-8A1C-51513B19B6AEQ26798052-0F5348F2-F19E-4E38-B402-2CBDA1AB1380Q26798712-5B7A22E8-701E-4817-A8E1-36A4AE9BE741Q27316380-73F20C1C-AA50-49B3-9A7D-6A1FA2ACD615Q27692590-561CF151-C7DA-45E7-B2F2-D3AE10A46698Q28072026-063F5C33-ABD6-4894-9D34-DB6E81DB75DAQ28116190-D1C445E4-E18A-432B-98C9-EB9CF11D8E35Q28386747-E420CD0A-7EA3-4FCF-A7CB-9E2DE31EAEBDQ28387241-FC6CACD4-E4F5-45FF-99B5-539170222211Q28392417-04BD755A-A4C0-4640-8611-F5D29D802568Q28395178-E532DC4F-C14F-4565-B0B8-734E17926AD9Q28397677-FD84A913-E3EE-4BDC-9EFD-6116CB174BD7Q28661465-887F16FB-5EC4-44A2-A4D6-AD3F04E7B1B8Q29614825-88912CE8-EB79-4607-B7C7-BC61236849EBQ30494546-1A5F5245-C8F8-4A47-8406-8E20B8254F69Q30668565-A08D3237-5954-4C3B-9D09-36F4291C4EB8Q33590834-8B573186-913F-4FEB-B630-82BED87A11BDQ34140909-ED0C9F4B-5123-4196-9374-040C35629105Q34152110-D8BB19BD-0A00-44F4-A150-F30D5B296B9CQ34288212-F6884C60-950F-4534-B4DD-895EFF9FF7C3Q34310363-185285CE-AF0C-424D-ACB0-1A51094FF600Q34428030-35D7CB0A-F872-43FA-AD5A-1399A5825434Q34458614-0F8BD011-DDB4-416D-B2A0-2F0D627AA55EQ34467650-E0AB9E61-FAD5-4FF9-B676-E1AFD39178EEQ34590193-1FBF1405-E657-4345-A1BD-77D5EEB24D11Q34605244-7FD5A82B-FC26-4D13-A198-F34C2C54EF68Q34873031-8E7DD9DC-21AD-451B-A7EC-025B28D6E641Q35128445-A0AB9EBE-9DB2-44C1-BB5A-3288D05DCC18Q35795415-32DC86BB-7B88-4793-91B8-E173A8ECDACDQ36200230-3D852F29-C0C4-44B4-B1A0-FAA0361448B4Q36358475-BEAD0337-7755-42D5-92BB-2BBD2D12C4FEQ36594262-BA2B1868-7819-48E0-A26D-7415BFD76B50Q36616878-AA29C011-E94B-453A-A4AD-325D7D0AD994Q36735868-ECA48264-C4F1-4B78-828A-CD6EF08F04F2
P2860
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@ast
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en-gb
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@nl
type
label
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@ast
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en-gb
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@nl
prefLabel
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@ast
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en-gb
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@nl
P2093
P2860
P921
P3181
P356
P1476
Mutation of DNAJC19, a human h ...... Barth syndrome-like condition
@en
P2093
D R McLeod
F F Snyder
F P Bernier
J S Parboosingh
P Ferreira
P J Bridge
P2860
P304
P3181
P356
10.1136/JMG.2005.036657
P407
P577
2006-05-01T00:00:00Z