Differential diagnosis of lipoic acid synthesis defects.

Differential diagnosis of lipoic acid synthesis defects.

Item
http://www.wikidata.org/entity/Q38944404
Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell deathIBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.Analysis of NFU-1 metallocofactor binding-site substitutions-impacts on iron-sulfur cluster coordination and protein structure and function.Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.Regulation of human Nfu activity in Fe-S cluster delivery-characterization of the interaction between Nfu and the HSPA9/Hsc20 chaperone complex.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.Acute loss of iron-sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells.Protein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymes
P2860

Differential diagnosis of lipoic acid synthesis defects.

Item
http://www.wikidata.org/entity/Q38944404
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Differential diagnosis of lipoic acid synthesis defects.
@en
type
label
Differential diagnosis of lipoic acid synthesis defects.
@en
prefLabel
Differential diagnosis of lipoic acid synthesis defects.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Differential diagnosis of lipoic acid synthesis defects
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698