The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
about
Mitochondrial disulfide relay mediates translocation of p53 and partitions its subcellular activitySOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesisStructure of the Human Sulfhydryl Oxidase Augmenter of Liver Regeneration and Characterization of a Human Mutation Causing an Autosomal Recessive Myopathy,Oxidative folding in the mitochondrial intermembrane space: A regulated process important for cell physiology and diseaseTim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stabilityRedox regulation of mitochondrial functionAnalysis of mitochondrial DNA variations in Indian patients with congenital cataractAugmenter of liver regeneration (alr) promotes liver outgrowth during zebrafish hepatogenesisFurther delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.Conserved and novel functions for Arabidopsis thaliana MIA40 in assembly of proteins in mitochondria and peroxisomesGrowth factor erv1-like modulates Drp1 to preserve mitochondrial dynamics and function in mouse embryonic stem cellsEncephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkA small molecule inhibitor of redox-regulated protein translocation into mitochondriaCLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.Maternally inherited mitochondrial DNA disease in consanguineous families.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Spectrum of combined respiratory chain defects.Loss of apoptosis-inducing factor critically affects MIA40 function.Role of tryptophan residues of Erv1: Trp95 and Trp183 are important for its folding and oxidase function.Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumorsMitochondrial deficiency in Cockayne syndrome.The power of yeast to model diseases of the powerhouse of the cell.The importance of mitochondria in age-related and inherited eye disorders.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Mechanisms of mitochondrial diseases.Oxidative folding in the mitochondrial intermembrane space in human health and disease.Common players in mitochondria biogenesis and neuronal protection against stress-induced apoptosis.The mitochondrial disulfide relay system: roles in oxidative protein folding and beyond.Mitochondrial protein translocases for survival and wellbeing.In Silico Identification of Proteins Associated with Drug-induced Liver Injury Based on the Prediction of Drug-target Interactions.Oxidative folding: recent developments.Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.The Level of ALR is Regulated by the Quantity of Mitochondrial DNA.Mitochondrial disulfide relay and its substrates: mechanisms in health and disease.Protein trafficking in the mitochondrial intermembrane space: mechanisms and links to human diseaseMitochondrial thiol oxidase Erv1: both shuttle cysteine residues are required for its function with distinct roles.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.MtDNA-maintenance defects: syndromes and genes.Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells.
P2860
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P2860
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@en
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@nl
type
label
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@en
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@nl
prefLabel
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@en
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@nl
P2093
P2860
P50
P1476
The mitochondrial disulfide re ...... respiratory-chain deficiency.
@en
P2093
Chiara Donadoni
Dario Ronchi
Elisa Fassone
Francesca Saladino
Francesco Fortunato
Iliana Ferrero
Laura Napoli
Marco Tigano
Sabrina Salani
Tiziana Lodi
P2860
P304
P356
10.1016/J.AJHG.2009.04.004
P407
P50
P577
2009-04-30T00:00:00Z