Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
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Metabolic Enzymes Enjoying New Partnerships as RNA-Binding ProteinsTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipasesMitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingSimultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersThe Cardiomyocyte RNA-Binding Proteome: Links to Intermediary Metabolism and Heart Disease.Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.Loss of the mitochondrial protein-only ribonuclease P complex causes aberrant tRNA processing and lethality in Drosophila.Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.Levels of 17β-Hydroxysteroid Dehydrogenase Type 10 in Cerebrospinal Fluid of People with Mild Cognitive Impairment and Various Types of Dementias.Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.
P2860
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P2860
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@en
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@nl
type
label
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@en
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@nl
prefLabel
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@en
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@nl
P2093
P2860
P356
P1476
Mutation or knock-down of 17β- ...... rial heavy strand transcripts.
@en
P2093
Albert Amberger
Andrea J Deutschmann
Claudia Zavadil
Herbert Steinbeisser
Johannes Zschocke
René G Feichtinger
Wyatt W Yue
P2860
P304
P356
10.1093/HMG/DDU072
P577
2014-02-18T00:00:00Z