A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
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Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsMitochondrial disorders: challenges in diagnosis & treatmentMitochondrial genome changes and neurodegenerative diseasesNucleotide salvage deficiencies, DNA damage and neurodegenerationSyndromic parkinsonism and dementia associated with OPA1 missense mutationsSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsPhenotypic rescue of a Drosophila model of mitochondrial ANT1 disease.MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Identification and characterization of alternative promoters, transcripts and protein isoforms of zebrafish R2 gene.Defects in mitochondrial DNA replication and human diseaseMPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletionsSLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsTwo novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaMammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cellsAdults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Mitochondrial DNA abnormalities in ophthalmological disease.A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.Mechanisms of mitochondrial diseases.Mitochondrial fusion proteins and human diseases.Ribonucleotide reductase and cancer: biological mechanisms and targeted therapies.Whole genome/exome sequencing in mood and psychotic disorders.A Critical Balance: dNTPs and the Maintenance of Genome StabilityIn vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductase.Highly mutagenic and severely imbalanced dNTP pools can escape detection by the S-phase checkpointMitochondrial myopathy induces a starvation-like response.Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.p53R2 as a novel prognostic biomarker in nasopharyngeal carcinoma.Response to Letter to the Editor: Can MR spectroscopy and muscle biopsy findings be correlated in MELAS and CPEO?Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.
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A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 06 August 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@en
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@nl
type
label
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@en
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@nl
prefLabel
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@en
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@nl
P2093
P2860
P1476
A heterozygous truncating muta ...... with multiple mtDNA deletions.
@en
P2093
Anu Suomalainen
Maria J Molnar
Mehul Patel
Ronald G Haller
P2860
P304
P356
10.1016/J.AJHG.2009.07.009
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P577
2009-08-06T00:00:00Z