相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Rosalba Carrozzo et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Kyle Thompson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Ashlee R. Stiles et al.
MOLECULAR GENETICS AND METABOLISM (2016)
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
Ilaria Dalla Rosa et al.
PLOS GENETICS (2016)
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Aurelio Reyes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Syndromic parkinsonism and dementia associated with OPA1 missense mutations
Valerio Carelli et al.
ANNALS OF NEUROLOGY (2015)
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism
Arnaud Besse et al.
CELL METABOLISM (2015)
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
Grainne S. Gorman et al.
JAMA NEUROLOGY (2015)
Molecular Pathogenesis of Polymerase Gamma-Related Neurodegeneration
Charalampos Tzoulis et al.
ANNALS OF NEUROLOGY (2014)
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Gerald Pfeffer et al.
BRAIN (2014)
Mitochondrial genome maintenance in health and disease
William C. Copeland et al.
DNA REPAIR (2014)
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Caterina Garone et al.
EMBO MOLECULAR MEDICINE (2014)
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
Yolanda Camara et al.
HUMAN MOLECULAR GENETICS (2014)
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions
Iselin Marie Wedding et al.
PLOS ONE (2014)
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance (voll 93, pg 471, 2013)
Penelope E. Bonnen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
OXPHOS mutations and neurodegeneration
Werner J. H. Koopman et al.
EMBO JOURNAL (2013)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Cornelia Kornblum et al.
NATURE GENETICS (2013)
TK2 MUTATION PRESENTING AS INDOLENT MYOPATHY
Carmen Paradas et al.
NEUROLOGY (2013)
LATE-ONSET RESPIRATORY FAILURE DUE TO TK2 MUTATIONS CAUSING MULTIPLE mtDNA DELETIONS
Charlotte L. Alston et al.
NEUROLOGY (2013)
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
Kevin A. Strauss et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
Caterina Garone et al.
ARCHIVES OF NEUROLOGY (2012)
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cecile Rouzier et al.
BRAIN (2012)
Dysfunctional mitochondrial maintenance: what breaks the circle of life?
Patrick Yu-Wai-Man et al.
BRAIN (2012)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Robert D. S. Pitceathly et al.
BRAIN (2012)
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi et al.
BRAIN (2012)
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
Henna Tyynismaa et al.
HUMAN MOLECULAR GENETICS (2012)
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna et al.
JOURNAL OF MEDICAL GENETICS (2012)
Mitochondrial disorders as windows into an ancient organelle
Scott B. Vafai et al.
NATURE (2012)
New MPV17 Mutations Associated with Multiple Deletions in Skeletal Muscle (S55.002)
C. Garone et al.
NEUROLOGY (2012)
Adult cases of mitochondrial DNA depletion due to TK2 defect An expanding spectrum
A. Behin et al.
NEUROLOGY (2012)
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
Emma L. Blakely et al.
NEUROMUSCULAR DISORDERS (2012)
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations
Raffaele Lodi et al.
ARCHIVES OF NEUROLOGY (2011)
Biochemical analysis of human POLG2 variants associated with mitochondrial disease
Matthew J. Young et al.
HUMAN MOLECULAR GENETICS (2011)
RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS
C. Fratter et al.
NEUROLOGY (2011)
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Atsushi Takata et al.
GENOME BIOLOGY (2011)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations
Hsiuchen Chen et al.
CELL (2010)
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2
Maggie C. Walter et al.
JOURNAL OF NEUROLOGY (2010)
The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency
Alessio Di Fonzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion
Carla Giordano et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
OPA1 mutations and mitochondrial DNA damage:: keeping the magic circle in shape
Massimo Zeviani
BRAIN (2008)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions:: a novel disorder of mtDNA maintenance
Gavin Hudson et al.
BRAIN (2008)
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
Emmanuelle Sarzi et al.
ANNALS OF NEUROLOGY (2007)
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
Anna H. Hakonen et al.
BRAIN (2007)
Deficiency of the a subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
Elsebet Ostergaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The yeast mitochondrial ADP/ATP carrier functions as a monomer in mitochondrial membranes
Lisa Bamber et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Alice Bourdon et al.
NATURE GENETICS (2007)
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo et al.
BRAIN (2007)
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
Elsebet Ostergaard et al.
BRAIN (2007)
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
Giovanna Pontarin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
Maryam Oskoui et al.
ARCHIVES OF NEUROLOGY (2006)
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Rita Horvath et al.
BRAIN (2006)
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
Matthew J. Longley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE GENETICS (2006)
Mitochondrial Neurogastrointestinal encephalomyopathy: Evidence of mitochondrial DNA depletion in the small intestine
C Giordano et al.
GASTROENTEROLOGY (2006)
New mutations in TK2 gene associated with mitochondrial DNA depletion
S Galbiati et al.
PEDIATRIC NEUROLOGY (2006)
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
M Nolden et al.
CELL (2005)
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
L Palmieri et al.
HUMAN MOLECULAR GENETICS (2005)
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali et al.
HUMAN MOLECULAR GENETICS (2005)
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
R Martí et al.
ANNALS OF NEUROLOGY (2005)
Disorders of nuclear-mitochondrial intergenomic signaling
A Spinazzola et al.
GENE (2005)
Mitochondrial deoxynucleotide pools in quiescent fibroblasts - A possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
P Ferraro et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
POLG mutations and Alpers syndrome
G Davidzon et al.
ANNALS OF NEUROLOGY (2005)
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
S Winterthun et al.
NEUROLOGY (2005)
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
G Ferrari et al.
BRAIN (2005)
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
M Deschauer et al.
NEUROMUSCULAR DISORDERS (2005)
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2005)
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations:: clinical and molecular genetic study
P Luoma et al.
LANCET (2004)
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
MA Graziewicz et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays
R Marti et al.
CLINICAL CHEMISTRY (2004)
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
G Van Goethem et al.
NEUROLOGY (2004)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ
M Filosto et al.
ARCHIVES OF NEUROLOGY (2003)
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
A Agostino et al.
NEUROLOGY (2003)
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
G Van Goethem et al.
NEUROMUSCULAR DISORDERS (2003)
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene
G Siciliano et al.
NEUROMUSCULAR DISORDERS (2003)
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
E Lamantea et al.
ANNALS OF NEUROLOGY (2002)
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
H Komaki et al.
ANNALS OF NEUROLOGY (2002)
Altered thymidine metabolism due to defects of thymidine phosphorylase
A Spinazzola et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
L Napoli et al.
NEUROLOGY (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
Respiratory chain deficiency in Alpers syndrome
M Gauthier-Villars et al.
NEUROPEDIATRICS (2001)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)