Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations - Test2 - elhamkhani - TriplyDB

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

http://www.wikidata.org/entity/Q24669653

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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease The human mitochondrial transcriptome and the RNA-binding proteins that regulate its expression Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs Mitonuclear interactions: evolutionary consequences over multiple biological scales A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation Modify or die?--RNA modification defects in metazoans Reduced TRMU expression increases the sensitivity of hair-cell-like HEI-OC-1 cells to neomycin damage in vitro Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.1,000 structures and more from the MCSG.Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Response of mechanosensory hair cells of the zebrafish lateral line to aminoglycosides reveals distinct cell death pathways.Modifiers of hearing impairment in humans and mice.A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration.Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss A compendium of human mitochondrial gene expression machinery with links to disease.Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.Mitochondrial DNA: impacting central and peripheral nervous systems.Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.Mechanistic study on the nuclear modifier gene MSS1 mutation suppressing neomycin sensitivity of the mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Effects of mitochondrial haplogroup N9a on type 2 diabetes mellitus and its associated complications.Mitochondrial deafness alleles confer misreading of the genetic code Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Expression and maintenance of mitochondrial DNA: new insights into human disease pathology Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

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P2860

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

http://www.wikidata.org/entity/Q24669653

description

2006 nî lūn-bûn

@nan

2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի օգոստոսին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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American Journal of Human Genetics

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Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations

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Emebet Mengesha

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Gema Garrido

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Hui Zhao

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Jaime Gallo-Teran

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Jennifer Lynne Peters

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Jianxin Lu

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Kimitsuna Watanabe

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Min-Xin Guan

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Mordechai Shohat

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Nathan Fischel-Ghodsian

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P2860

The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase.

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

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291-302

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10.1086/506389

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2

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79

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Ignacio del Castillo

Xavier Estivill i Pallejà

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2006-08-01T00:00:00Z

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6957835

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16826519

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