MtDNA-maintenance defects: syndromes and genes

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

(2016) Kyle Thompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

(2016) Ilaria Dalla Rosa et al.   PLoS Genetics

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

(2015) Arnaud Besse et al.   Cell Metabolism

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

(2015) Rosalba Carrozzo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28

(2015) Gráinne S. Gorman et al.   JAMA Neurology

Molecular pathogenesis of polymerase gamma-related neurodegeneration

(2014) Charalampos Tzoulis et al.   ANNALS OF NEUROLOGY

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Mitochondrial genome maintenance in health and disease

(2014) William C. Copeland et al.   DNA REPAIR

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

(2014) C. Garone et al.   EMBO Molecular Medicine

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

(2014) Iselin Marie Wedding et al.   PLoS One

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

(2013) Yolanda Cámara et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

TK2 mutation presenting as indolent myopathy

(2013) C. Paradas et al.   NEUROLOGY

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

(2013) C. L. Alston et al.   NEUROLOGY

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

(2013) Kevin A. Strauss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

(2012) Caterina Garone et al.   ARCHIVES OF NEUROLOGY

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

(2012) P. Yu-Wai-Man et al.   BRAIN

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

(2012) Robert D. S. Pitceathly et al.   BRAIN

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

OXPHOS mutations and neurodegeneration

(2012) Werner J H Koopman et al.   EMBO JOURNAL

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

New MPV17 Mutations Associated with Multiple Deletions in Skeletal Muscle (S55.002)

(2012) C. Garone et al.   NEUROLOGY

Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum

(2012) A. Behin et al.   NEUROLOGY

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

(2012) Emma L. Blakely et al.   NEUROMUSCULAR DISORDERS

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Biochemical analysis of human POLG2 variants associated with mitochondrial disease

(2011) Matthew J. Young et al.   HUMAN MOLECULAR GENETICS

Complete loss of expression of theANT1gene causing cardiomyopathy and myopathy

(2011) Andoni Echaniz-Laguna et al.   JOURNAL OF MEDICAL GENETICS

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

(2011) C. Fratter et al.   NEUROLOGY

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

(2011) Atsushi Takata et al.   GENOME BIOLOGY

Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Raffaele Lodi et al.   ARCHIVES OF NEUROLOGY

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2

(2010) Maggie C. Walter et al.   JOURNAL OF NEUROLOGY

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

(2009) Alessio Di Fonzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

(2008) M. Zeviani   BRAIN

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN