Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
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Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryThe role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseasesMitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.Analysis of microRNA from archived formalin-fixed paraffin-embedded specimens of amyotrophic lateral sclerosisClinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.iTRAQ-Based Quantitative Proteomics Identifies Potential Regulatory Proteins Involved in Chicken Eggshell Brownness.Protein-mediated assembly of succinate dehydrogenase and its cofactorsRoles of Fe-S proteins: from cofactor synthesis to iron homeostasis to protein synthesis.Mammalian Fe-S proteins: definition of a consensus motif recognized by the co-chaperone HSC20Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.Lipoic acid biosynthesis defects.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Differential diagnosis of lipoic acid synthesis defects.Mitochondria and Iron: current questions.Genome-wide association study on antipsychotic-induced weight gain in the CATIE sample.IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.Evidence for a catalytically and kinetically competent enzyme-substrate cross-linked intermediate in catalysis by lipoyl synthaseMutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.Iron-Sulfur Protein Assembly in Human Cells.Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.NMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
P2860
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P2860
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Mutation of the iron-sulfur cl ...... e myopathy and encephalopathy.
@en
type
label
Mutation of the iron-sulfur cl ...... e myopathy and encephalopathy.
@en
prefLabel
Mutation of the iron-sulfur cl ...... e myopathy and encephalopathy.
@en
P2093
P2860
P50
P356
P1476
Mutation of the iron-sulfur cl ...... e myopathy and encephalopathy.
@en
P2093
Arnaud Vincent Vanlander
Boel De Paepe
Claudia Wilbrecht
Elien De Latter
François Eyskens
Gwenda Delanghe
Jules Gerard Leroy
Lut Van Laer
Nathalie Van der Aa
P2860
P304
P356
10.1093/HMG/DDT107
P577
2013-03-05T00:00:00Z