About: A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific journal article

Attributes	Values
rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 1996 (ast) vědecký článek publikovaný v roce 1996 (cs) 1996 թվականի ապրիլին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована у квітні 1996 (uk) 1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած (hyw) مقالة علمية (نشرت في أبريل 1996) (ar) vedecký článok (publikovaný 1996/04/01) (sk) article scientifique publié en 1996 (fr) scientific journal article (en) im April 1996 veröffentlichter wissenschaftlicher Artikel (de) wetenschappelijk artikel (gepubliceerd op 1996/04/01) (nl)
publication date	wds:Q28115983-EF690689-B026-4B20-BA10-1D564C05253B
publication date	1996-04-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28115983-7AB1C864-578D-4212-ADFF-12E5E2A0B1B8
language of work or name	English
exact match	wds:Q28115983-90FA7D98-C5A2-4225-8A8F-BDC8743CB430
exact match	https://scigraph.springernature.com/pub.10.1038/ng0496-410
cites work	wds:Q28115983-04A67A7A-ED8C-47CB-B419-92F454B27187 wds:Q28115983-06401752-03E5-41A8-8550-A38E58433696 wds:Q28115983-0E35D28F-E258-4CC3-BD7A-B84DB35674D9 wds:Q28115983-0FFCFB9F-17C5-4D35-8C75-34D1B1FEB259 wds:Q28115983-148F5A65-BBA1-4938-8658-F5F14E2C612F wds:Q28115983-31B06CAE-4C8B-414C-AE06-550CD620030B wds:Q28115983-335446B8-6AED-4892-9245-E6A32552F90A wds:Q28115983-3F718C87-0A4E-4BB0-86C6-852842D39966 wds:Q28115983-49AA132B-2FA5-4D4E-969B-8FAA3CD9B5EA wds:Q28115983-574890D8-9C86-4B61-8E3D-2DB253791B11 wds:Q28115983-58A7077A-6AFF-4710-AE62-0CE7B3F20234 wds:Q28115983-59E18995-FBD5-4C3C-B17F-447D677A7518 wds:Q28115983-7053099E-BB5A-43A0-8578-5CE620FF1411 wds:Q28115983-745BF7EE-BDB6-4C77-9F2E-0DB45159D71F wds:Q28115983-7AAFF0F9-CBBB-4D8E-97D6-4C92C12AD8BA wds:Q28115983-7AC51195-7812-4410-9687-D7AC7948BDB9 wds:Q28115983-809B0ABE-FCCA-4D8E-B7AC-2B372D387537 wds:Q28115983-81851E9F-7B63-4A2E-8D29-D015EA5547BE wds:Q28115983-89998ABA-7EC0-473F-9396-F158DE23C188 wds:Q28115983-93DE85D5-8832-4D21-B69E-CFE5D3306475 wds:Q28115983-A26CA736-9F2C-4228-8EE6-F9CBEFD05303 wds:Q28115983-A4D87A8D-9AC8-4CB0-887D-2CF91BAA5E81 wds:Q28115983-AD37BED8-EC2F-4969-82F8-2BC9E2A36962 wds:Q28115983-B526C591-0D59-47CB-86BF-3580725634E1 wds:Q28115983-B735C7F5-EE6A-4090-9609-F97FFEB732BE wds:Q28115983-B7501E2D-29BE-43DD-B2B9-0A0A402EFFE1 wds:Q28115983-BB0AFC5A-4045-44B6-ABCB-DF95FB4A280E wds:Q28115983-BC85711C-13CA-4C72-A151-6D4470291951 wds:Q28115983-BE544C1B-A6CC-4846-B5DA-22A0DC571D51 wds:Q28115983-BE916F0D-052B-43BF-9D9B-0336FCC799A0 wds:Q28115983-C12917B8-D14C-4215-9C76-C18C4EA9E220 wds:Q28115983-CDB458C2-EF7D-49C3-AB5E-44CEB67A06D8 wds:Q28115983-D2B5F81B-468F-49BB-8196-F2F659CB9DB0 wds:Q28115983-D4073E3A-BDA7-4A23-BC7F-B10B9AE41CED wds:Q28115983-E2F5AD98-867A-4A4E-8432-FE3CCD33DD2A wds:Q28115983-E90B2A22-B753-4634-948F-483895EEE33E wds:Q28115983-EB6C0358-45F6-4D75-A144-7822B1D89B3B wds:Q28115983-EDF6D576-0CB8-49BD-B7F2-D317AB1FDC82 wds:Q28115983-EE0DC2B6-ED64-4FB9-B410-A4156916A733 wds:Q28115983-F00A36EB-9E1A-4DDD-9675-3B983A6990CF wds:Q28115983-F7A615E6-8907-446D-8A3E-4E34B6BE90ED wds:Q28115983-FB124928-6BB7-4234-BEC5-974BC3D1E1C9 wds:Q28115983-FDE60112-A309-429D-982A-1282AC13D692 wds:Q28115983-FF55D48B-C5FF-4A43-8163-B314CBDA2707
cites work	Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome The kinetic basis of threshold effects observed in mitochondrial diseases: a systemic approach Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency Leber's hereditary optic neuropathy. New genetic considerations Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. Structure and function of cytochrome c oxidase A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria Sequence and organization of the human mitochondrial genome Structural features of cytochrome oxidase Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach Cytochrome c oxidase deficiency Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Mitochondrial encephalomyopathies: clinical and molecular analysis Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes A mitochondrial tRNA anticodon swap associated with a muscle disease Lacticacidemia Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease Mitochondrial DNA deletions in inherited recurrent myoglobinuria Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Molecular basis of mitochondrial DNA disease Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Subunit III of cytochrome c oxidase is not involved in proton translocation: a site-directed mutagenesis study MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 188 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software