FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
about
Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respirationThe expanding universe of ribonucleoproteins: of novel RNA-binding proteins and unconventional interactionsMitochondrial cytochrome c oxidase deficiencyMitochondrial geneticsInsights into the post-transcriptional regulation of the mitochondrial electron transport chainA novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain.Functional genomic analysis of human mitochondrial RNA processing.Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.Exome sequencing in undiagnosed inherited and sporadic ataxiasAlzheimer's disease is associated with altered expression of genes involved in immune response and mitochondrial processes in astrocytes.FASTKD2 is associated with memory and hippocampal structure in older adults.FASTKD2 and human memory: functional pathways and prospects for novel therapeutic target development for Alzheimer's disease and age-associated memory declineFASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation.Mitochondrial ribosome assembly in health and diseaseMitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesisThe genetics and pathology of mitochondrial disease.A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Mechanisms of mitochondrial diseases.Transduction of human recombinant proteins into mitochondria as a protein therapeutic approach for mitochondrial disorders.Mitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Seten: a tool for systematic identification and comparison of processes, phenotypes, and diseases associated with RNA-binding proteins from condition-specific CLIP-seq profiles.A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression.Mouse models for mitochondrial diseases.The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.A brave new world of RNA-binding proteins.Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.
P2860
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P2860
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
description
2008 nî lūn-bûn
@nan
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
2008年论文
@zh
2008年论文
@zh-cn
name
FASTKD2 nonsense mutation in a ...... tochrome c oxidase deficiency.
@en
type
label
FASTKD2 nonsense mutation in a ...... tochrome c oxidase deficiency.
@en
prefLabel
FASTKD2 nonsense mutation in a ...... tochrome c oxidase deficiency.
@en
P2093
P2860
P50
P1476
FASTKD2 nonsense mutation in a ...... tochrome c oxidase deficiency.
@en
P2093
Orly Elpeleg
Paolo Gasparini
Pio D'Adamo
P2860
P304
P356
10.1016/J.AJHG.2008.08.009
P407
P577
2008-09-04T00:00:00Z