About: Biochemical and molecular investigations in respiratory chain deficiencies

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

About: Biochemical and molecular investigations in respiratory chain deficiencies Goto Sponge Distinct Permalink

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

scientific article published on 01 July 1994

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1994 (uk) article scientifique publié en 1994 (fr) im Juli 1994 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1994 (ast) scientific article published on 01 July 1994 (en)
publication date	wds:Q72792351-52EB41C8-3E97-4757-907C-24F31E61BDDB
publication date	1994-07-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q72792351-3746E245-B631-400F-AF8C-85DD9E5E3B78 wds:Q72792351-3AD1FBF8-B818-4AFB-A427-A53B1C9F0115 wds:Q72792351-6342ACDE-03B4-436E-A0A0-1392CCF37322 wds:Q72792351-AFD91035-5470-431E-8076-FA0C6C2998A5 wds:Q72792351-BD3D9908-2D81-46C1-939F-572D88EA5AB1 wds:Q72792351-CB7E9EC8-4B1D-4E0D-A440-0B97AFEA3156 wds:Q72792351-E50F2F66-5944-47FA-AE5E-A226E51004F0
author name string	A Munnich J M Saudubray A Rötig P Rustin D Chretien B Gérard T Bourgeron
rdfs:label	Biochemical and molecular investigations in respiratory chain deficiencies (en) Biochemical and molecular investigations in respiratory chain deficiencies (nl)
skos:prefLabel	Biochemical and molecular investigations in respiratory chain deficiencies (en) Biochemical and molecular investigations in respiratory chain deficiencies (nl)
name	Biochemical and molecular investigations in respiratory chain deficiencies (en) Biochemical and molecular investigations in respiratory chain deficiencies (nl)
title	wds:Q72792351-68E5B00C-A6D7-4E56-A14C-66EDB07A3F4F
title	Biochemical and molecular investigations in respiratory chain deficiencies (en)
page(s)	wds:Q72792351-3290BDF2-9EB3-44D4-8E05-47AFE10FC318
page(s)	35-51
instance of	wds:Q72792351-32A1901E-3919-4244-A19E-B7C2AA46DA9D wds:Q72792351-f4d87442-2267-427b-abf2-6450db33f283
instance of	review article scholarly article
PubMed ID	wds:Q72792351-87708D67-6713-4AD8-A4E7-8D68AD966067
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7955428
PubMed ID	7955428
published in	wds:Q72792351-CB41DCCC-057A-4255-B7C8-3BB2785C6C25
published in	Clinica Chimica Acta
issue	wds:Q72792351-89776B66-DA6C-43AA-974C-0FAC1ECF19EB
volume	wds:Q72792351-BC2B50E6-7533-4D08-8CCC-443F4A44B37E
issue	1
volume	228
DOI	wds:Q72792351-9C6A0376-27EE-4158-B588-BFD19922784F
DOI	http://dx.doi.org/10.1016/0009-8981(94)90055-8
DOI	10.1016/0009-8981(94)90055-8
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72792351
is cites work of	Costunolide induces apoptosis by ROS-mediated mitochondrial permeability transition and cytochrome C release Biochemical diagnosis of mitochondrial disorders Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts. Variable outcome of growth hormone administration in respiratory chain deficiency Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers Inhibition of mitochondrial respiratory chain in the brain of adult rats after acute and chronic administration of methylphenidate Mitochondrial cytochrome c oxidase deficiency Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia Carbon monoxide specifically inhibits cytochrome c oxidase of human mitochondrial respiratory chain Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Liver disease in mitochondrial disorders Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Impairment of energy metabolism in hippocampus of rats subjected to chemically-induced hyperhomocysteinemia In vitro effects of silver nanoparticles on the mitochondrial respiratory chain. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays Changes in mitochondrial enzymatic activities of monocytes during prolonged hypobaric hypoxia and influence of antioxidants: A randomized controlled study. Reversible inhibition of mitochondrial protein synthesis during linezolid-related hyperlactatemia Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle AIF deficiency compromises oxidative phosphorylation Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit Neurotoxic effects of trans-glutaconic acid in rats

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, 196 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software