Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
about
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryFunctional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxinCase report: perioperative management of caesarean section for a parturient with mitochondrial myopathyClinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Rhabdomyolysis: a genetic perspective.Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.Molecular diagnosis of coenzyme Q10 deficiency.Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Regulation of iron homeostasis by the p53-ISCU pathway.Differential diagnosis of lipoic acid synthesis defects.Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.Mitochondria and Iron: current questions.Mitochondrial Ferredoxin Determines Vulnerability of Cells to Copper Excess.Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.Functional implications of the interaction between HscB and IscU in the biosynthesis of FeS clusters.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Molecular chaperones involved in mitochondrial iron-sulfur protein biogenesis.FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.Iron-Sulfur Protein Assembly in Human Cells.Iron-sulfur clusters: from metals through mitochondria biogenesis to disease.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.NMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
P2860
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P2860
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
description
2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
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2013年学术文章
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2013年學術文章
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name
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@ast
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@en
type
label
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@ast
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@en
prefLabel
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@ast
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@en
P2093
P2860
P356
P1476
Deleterious mutation in FDX1L ...... mitochondrial muscle myopathy
@en
P2093
Avraham Shaag
Devorah Soiferman
Jonatan Halvardson
Morad Khayat
Orly Elpeleg
Ronen Spiegel
Stavit A Shalev
Yoseph Horovitz
P2860
P2888
P304
P356
10.1038/EJHG.2013.269
P577
2013-11-27T00:00:00Z