Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
about
Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Mammalian Fe-S proteins: definition of a consensus motif recognized by the co-chaperone HSC20Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Differential diagnosis of lipoic acid synthesis defects.IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Iron-Sulfur Protein Assembly in Human Cells.Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.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.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.A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
P2860
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P2860
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@ast
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@en
type
label
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@ast
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@en
prefLabel
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@ast
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@en
P2860
P50
P356
P1476
Cavitating leukoencephalopathy ...... n syndrome and NFU1 mutations.
@en
P2093
Laura Farina
P2860
P356
10.3389/FGENE.2014.00412
P50
P577
2014-11-20T00:00:00Z