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Strong purifying selection in transmission of mammalian mitochondrial DNA

PLoS biology, 2008-01, Vol.6 (1), p.e10-e10

2008

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LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

The EMBO journal, 2012-01, Vol.31 (2), p.443-456

2012

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Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

PLoS genetics, 2019-07, Vol.15 (7), p.e1008240-e1008240

2019

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Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

PLoS genetics, 2016-05, Vol.12 (5), p.e1006028-e1006028

2016

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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Stem cell reports, 2019-04, Vol.12 (4), p.696-711

2019

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MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

PLoS genetics, 2013-01, Vol.9 (1), p.e1003178-e1003178

2013

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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

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A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Biomedicines, 2022-12, Vol.10 (12), p.3171

2022

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Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Frontiers in neurology, 2021-03, Vol.12, p.652590

2021

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A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Human molecular genetics, 2017-07, Vol.26 (13), p.2515-2525

2017

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.73-73, Article 73

2017

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The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

PLoS genetics, 2011-10, Vol.7 (10), p.e1002324-e1002324

2011

Volltextzugriff (PDF)

The molecular machinery for maturation of primary mtDNA transcripts

Human molecular genetics, 2024-05, Vol.33 (R1), p.R19-R25

2024

Volltextzugriff (PDF)

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

The Journal of pediatrics, 2021-01, Vol.228, p.240-251.e2

2021

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Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

Cell metabolism, 2009-08, Vol.10 (2), p.131-138

2009

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

Nature, 2004-05, Vol.429 (6990), p.417-423

2004

Volltextzugriff (PDF)

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

Human molecular genetics, 2022-06, Vol.31 (12), p.2049-2062

2022

Volltextzugriff (PDF)

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1357-1372

2023

Volltextzugriff (PDF)

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

American journal of human genetics, 2022-08, Vol.109 (8), p.1421-1435

2022

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Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy

Human molecular genetics, 2009-01, Vol.18 (2), p.278-288

2009

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Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Neurology, 2018-10, Vol.91 (15), p.710

2018

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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

American journal of human genetics, 2015-11, Vol.97 (5), p.761-768

2015

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Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

Molecular genetics and metabolism, 2017-07, Vol.121 (3), p.216-223

2017

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Strong purifying selection in transmission of mammalian mitochondrial DNA

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

The molecular machinery for maturation of primary mtDNA transcripts

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

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