ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
about
Role of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients.ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.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 HSC20Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Differential diagnosis of lipoic acid synthesis defects.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.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.Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.Involvement of the Spinal Cord in Mitochondrial Disorders.A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.NMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
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P2860
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
description
2014 nî lūn-bûn
@nan
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
2014年论文
@zh
2014年论文
@zh-cn
name
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
@en
type
label
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
@en
prefLabel
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
@en
P2093
P2860
P1476
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
@en
P2093
Ali AlAsmari
Eissa A Faqeih
Faten Alhadeq
Faten B Almutari
Futwan A Al-Mohanna
Hesham Alshaalan
Hindi Al-Hindi
Majid Alfadhel
Makki Almuntashri
Maysoon Alsagob
P2860
P304
P356
10.1136/JMEDGENET-2014-102592
P407
P50
P577
2014-12-24T00:00:00Z