About: Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

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About: Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency Goto Sponge NotDistinct Permalink

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description	article (en) wetenschappelijk artikel (nl) im Oktober 2018 veröffentlichter wissenschaftlicher Artikel (de) наукова стаття, опублікована в жовтні 2018 (uk)
publication date	wds:Q57023932-9B69732F-1DBE-4448-ACD0-D8473F543C7E
publication date	2018-09-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57023932-654FD2BA-C0B5-4D60-BB92-7F5AFFEF5041
language of work or name	English
cites work	wds:Q57023932-0092E577-2464-4270-B108-6FA38713A326 wds:Q57023932-02136025-09B8-4389-9B0C-88D04635794E wds:Q57023932-0B5580E3-EA38-43E4-8F12-C9540A13BF7E wds:Q57023932-0C7CF7FE-3C6E-40A5-A0B2-C1D4FDD028A5 wds:Q57023932-0E9C7EB3-A75A-4610-BEB8-6A5A71E4F057 wds:Q57023932-2131A4D0-3FAF-42A5-B6AC-169309E77619 wds:Q57023932-27139314-6FA7-4021-873E-E7222D211F0D wds:Q57023932-29C56308-7267-4B4C-ACA2-57A9DB1EB19F wds:Q57023932-29C5AD53-CEEC-4688-8FF9-E8AF5CAF7309 wds:Q57023932-2FE8465B-BBA9-4347-B572-3EEFE539BC56 wds:Q57023932-36857E37-7487-486C-9EC2-B22E69287D16 wds:Q57023932-3C8529C5-BACE-4605-A762-B02D9227286C wds:Q57023932-3FB35A0A-C917-4A01-8AAB-A08DBE5A17C1 wds:Q57023932-455275C5-B00F-43D4-AC89-CE9E86BEC4F0 wds:Q57023932-4E099C13-B73F-4CD6-A00A-B3DFEC7AD0FC wds:Q57023932-577F3974-DA3F-4952-8FFD-0737DCED515B wds:Q57023932-5CCBD47E-376B-4984-B073-768984B14FF9 wds:Q57023932-5E3A5BB1-7A74-48C4-AFB0-7A06AD7C8389 wds:Q57023932-649D7891-D7AA-478B-89FF-D81C2F6BBD31 wds:Q57023932-6BF98F69-5AB7-42CE-88CB-847416F7D1EC wds:Q57023932-73C714A2-F94F-4FD1-9E10-0110EE7E451C wds:Q57023932-78CC44BE-BCEE-4864-86F7-3921E079A1E9 wds:Q57023932-7A5AD170-00CD-478E-A934-3C22126CB45D wds:Q57023932-92208367-E47F-4EF7-A325-90D1C636B658 wds:Q57023932-98AD2361-F37C-4BAE-9943-51FA4C659C08 wds:Q57023932-9A1A26B5-0B50-4816-BFE2-0FB6F521BBBE wds:Q57023932-9B532749-3F62-4B49-BCB0-3C05BBBBFFF4 wds:Q57023932-A35E745B-473E-474E-A4A0-30EC11504B28 wds:Q57023932-AA688BBF-CAEC-4C68-80A5-6A972686FA0A wds:Q57023932-AB541D0C-1FC1-4CF6-B2DE-3FE9D9331407 wds:Q57023932-B0D80A9A-DCA1-4D51-B6FC-B4CDF08C1D88 wds:Q57023932-B8A43033-FBF6-43D0-BD24-EED3297C1EFF wds:Q57023932-BF082A73-4F04-4112-94C5-8F4C39205481 wds:Q57023932-CAAA41FB-74A1-48B9-93D7-D8F2C9C6B33F wds:Q57023932-D1F829EB-7340-4C20-B94C-FF4B951830EB wds:Q57023932-D9ED5A62-A534-4DC5-A7D9-E7EC81ECA39C wds:Q57023932-ED155FF2-CD9F-497B-BAC5-9342337ECEBA wds:Q57023932-F5F0D971-7406-4DDC-968F-F916164A085A
cites work	Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Accessory subunits are integral for assembly and function of human mitochondrial complex I. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency Improved staining of proteins in polyacrylamide gels including isoelectric focusing gels with clear background at nanogram sensitivity using Coomassie Brilliant Blue G-250 and R-250. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I A general framework for estimating the relative pathogenicity of human genetic variants GeneMatcher: a matching tool for connecting investigators with an interest in the same gene Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy Assembly factors of human mitochondrial complex I and their defects in disease Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels. Binary specification of nonsense codons by splicing and cytoplasmic translation Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype Structure and function of mitochondrial complex I. The LYR protein subunit NB4M/NDUFA6 of mitochondrial complex I anchors an acyl carrier protein and is essential for catalytic activity Respiratory chain complex I deficiency caused by mitochondrial DNA mutations High-resolution respirometry: OXPHOS protocols for human cells and permeabilized fibers from small biopsies of human muscle MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 Structure of Mammalian Respiratory Supercomplex I1III2IV1. Contribution of proline to the pre-structuring tendency of transient helical secondary structure elements in intrinsically disordered proteins. Genetic diagnosis of Mendelian disorders via RNA sequencing Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Building a complex complex: Assembly of mitochondrial respiratory chain complex I. Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology. SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
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