Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins - Wikidata - awgldk - TriplyDB

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

http://www.wikidata.org/entity/Q24594335

about

Single-gene disorders: what role could moonlighting enzymes play?Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance Evidence for a conserved system for iron metabolism in the mitochondria of Saccharomyces cerevisiae.A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.Mitochondrial disease in superoxide dismutase 2 mutant mice Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms Mitochondrial aconitase gene expression is regulated by testosterone and prolactin in prostate epithelial cells Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Age-related increases in oxidatively damaged proteins of mouse kidney mitochondrial electron transport chain complexes The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.Protein-mediated assembly of succinate dehydrogenase and its cofactors Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.Loss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasis Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle Metabolic Myoglobinuria.The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.Exposure of aconitase to smoking-related oxidants results in iron loss and increased iron response protein-1 activity: potential mechanisms for iron accumulation in human arterial cells.Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

http://www.wikidata.org/entity/Q24594335

description

1993 nî lūn-bûn

@nan

1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

1993年の論文

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1993年論文

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1993年論文

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1993年論文

@zh-hk

1993年論文

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1993年論文

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1993年论文

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name

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

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Mitochondrial myopathy with su ...... f several iron-sulfur proteins

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Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@nl

type

label

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

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Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@en

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@nl

prefLabel

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@ast

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@en

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@nl

P1433

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P1433

Journal of Clinical Investigation

P1476

Mitochondrial myopathy with su ...... f several iron-sulfur proteins

@en

P2093

K G Henriksson

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N G Kennaway

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R E Hall

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R G Haller

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S F Lewis

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P2860

Protein measurement with the Folin phenol reagent

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

Isolation and characterization of the nuclear gene encoding the Rieske iron-sulfur protein (RIP1) from Saccharomyces cerevisiae.

Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction

Interaction of rhodanese with mitochondrial NADH dehydrogenase

Magnetic circular dichroism studies of succinate dehydrogenase. Evidence for [2Fe-2S], [3Fe-xS], and [4Fe-4S] centers in reconstitutively active enzyme

The general mitochondrial matrix processing protease from rat liver: structural characterization of the catalytic subunit

Survey of amino-terminal proteolytic cleavage sites in mitochondrial precursor proteins: leader peptides cleaved by two matrix proteases share a three-amino acid motif

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.

The mitochondrial targeting presequence of the Rieske iron-sulfur protein is processed in a single step after insertion into the cytochrome bc1 complex in mammals and retained as a subunit in the complex.

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2660-6

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scholarly article

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2794164

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10.1172/JCI116882

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6

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92

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1993-12-01T00:00:00Z

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14945314

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8254022

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288463

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