Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
about
MicroRNA-210 regulates mitochondrial free radical response to hypoxia and krebs cycle in cancer cells by targeting iron sulfur cluster protein ISCUGlutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblastsHuman Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasisMicroRNA-210: a unique and pleiotropic hypoxamirHuman iron-sulfur cluster assembly, cellular iron homeostasis, and diseaseMicroRNA-210 controls mitochondrial metabolism during hypoxia by repressing the iron-sulfur cluster assembly proteins ISCU1/2Iron-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 iron-sulfur cluster dysfunction in neurodegenerative diseaseReduction of mitoferrin results in abnormal development and extended lifespan in Caenorhabditis elegansEmerging critical roles of Fe-S clusters in DNA replication and repair.Three-Dimensional Structure and Determinants of Stability of the Iron–Sulfur Cluster Scaffold Protein IscU from Escherichia coliVariant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5miR-210: More than a silent player in hypoxiaCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyMitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.Friedreich's ataxia: the vicious circle hypothesis revisited.Frataxin and mitochondrial FeS cluster biogenesis.Iron-sulfur cluster biogenesis and human diseaseFe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron and requirements for GTP, NADH, and ATP.The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotypemiR-210 targets iron-sulfur cluster scaffold homologue in human trophoblast cell lines: siderosis of interstitial trophoblasts as a novel pathology of preterm preeclampsia and small-for-gestational-age pregnancies.Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanismsA fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsCardiac metabolic pathways affected in the mouse model of barth syndrome.Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.Altered Gene Expression Associated with microRNA Binding Site PolymorphismsmiR-210: fine-tuning the hypoxic response.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.Specialized Hsp70 chaperone (HscA) binds preferentially to the disordered form, whereas J-protein (HscB) binds preferentially to the structured form of the iron-sulfur cluster scaffold protein (IscU).Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Loss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasis
P2860
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P2860
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Splice mutation in the iron-su ...... athy with exercise intolerance
@ast
Splice mutation in the iron-su ...... athy with exercise intolerance
@en
Splice mutation in the iron-su ...... athy with exercise intolerance
@nl
type
label
Splice mutation in the iron-su ...... athy with exercise intolerance
@ast
Splice mutation in the iron-su ...... athy with exercise intolerance
@en
Splice mutation in the iron-su ...... athy with exercise intolerance
@nl
prefLabel
Splice mutation in the iron-su ...... athy with exercise intolerance
@ast
Splice mutation in the iron-su ...... athy with exercise intolerance
@en
Splice mutation in the iron-su ...... athy with exercise intolerance
@nl
P2093
P2860
P50
P3181
P1476
Splice mutation in the iron-su ...... athy with exercise intolerance
@en
P2093
Dena Hernandez
Fanny Mochel
Karen Ayyad
Kenneth H Fischbeck
Melanie A Knight
Ronald G Haller
Tracey A Rouault
Wing-Hang Tong
P2860
P304
P3181
P356
10.1016/J.AJHG.2007.12.012
P407
P577
2008-03-01T00:00:00Z