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Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model
Ann Meulemans et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Analysis of Leigh Syndrome Mutations in the Yeast SURF1 Homolog Reveals a New Member of the Cytochrome Oxidase Assembly Factor Family
Megan Bestwick et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
Helen A. L. Tuppen et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella et al.
NATURE GENETICS (2010)
Mitochondrial fusion and fission in cell life and death
Benedikt Westermann
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)
OPINION Modelling neurodegeneration in Saccharomyces cerevisiae: why cook with baker's yeast?
Vikram Khurana et al.
NATURE REVIEWS NEUROSCIENCE (2010)
Mitochondrial DNA depletion syndromes - Many genes, common mechanisms
Anu Suomalainen et al.
NEUROMUSCULAR DISORDERS (2010)
In vivo analysis of mtDNA replication defects in yeast
Enrico Baruffini et al.
METHODS (2010)
Mitochondrial inheritance in budding yeasts: towards an integrated understanding
Lisa Solieri
TRENDS IN MICROBIOLOGY (2010)
A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy
Houman Ashrafian et al.
PLOS GENETICS (2010)
A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
Andrew J. Duncan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
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)
SLC25A19 Mutation as a Cause of Neuropathy and Bilateral Striatal Necrosis
Ronen Spiegel et al.
ANNALS OF NEUROLOGY (2009)
Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy
Gittan Kollberg et al.
BRAIN (2009)
Distinct roles of the two isoforms of the dynamin-like GTPase Mgm1 in mitochondrial fusion
Michael Zick et al.
FEBS LETTERS (2009)
OPA1-associated disorders: Phenotypes and pathophysiology
Patrizia Amati-Bonneau et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2009)
Mitochondrial Fatty Acid Synthesis Type II: More than Just Fatty Acids
J. Kalervo Hiltunen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
A variable neurodegenerative phenotype with polymerase gamma mutation
S. Stricker et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
A Mutation Associated with CMT2A Neuropathy Causes Defects in Fzo1 GTP Hydrolysis, Ubiquitylation, and Protein Turnover
Elizabeth A. Amiott et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Daniele Ghezzi et al.
NATURE GENETICS (2009)
Reactive oxygen species regulate DNA copy number in isolated yeast mitochondria by triggering recombination-mediated replication
Akiko Hori et al.
NUCLEIC ACIDS RESEARCH (2009)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
Fanny Mochel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
Valeria Massa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The versatility of mitochondrial calcium signals: From stimulation of cell metabolism to induction of cell death
Alessandro Rimessi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2008)
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini et al.
CELL (2008)
Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair
Hyun-Min Kim et al.
EMBO JOURNAL (2008)
Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Angelica Olsson et al.
HUMAN MOLECULAR GENETICS (2008)
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases
Xiaowen Wang et al.
HUMAN MOLECULAR GENETICS (2008)
Yeast chemical genomics and drug discovery: an update
Shawn Hoon et al.
TRENDS IN PHARMACOLOGICAL SCIENCES (2008)
Yeast as a model of human mitochondrial tRNA base substitutions: Investigation of the molecular basis of respiratory defects
Arianna Montanari et al.
RNA (2008)
Diagnosing and exploiting cancer's addiction to blocks in apoptosis
Anthony G. Letai
NATURE REVIEWS CANCER (2008)
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human
Enrico Baruffini et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2007)
Evolutionary tinkering with mitochondrial nucleoids
Martin Kucej et al.
TRENDS IN CELL BIOLOGY (2007)
Mitochondrial disorders
Massimo Zeviani et al.
CURRENT OPINION IN NEUROLOGY (2007)
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
Erika Fernandez-Vizarra et al.
HUMAN MOLECULAR GENETICS (2007)
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
Jose M. Lopez-Martin et al.
HUMAN MOLECULAR GENETICS (2007)
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
Julie Mollet et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Mitochondrial phosphate-carrier deficiency:: A novel disorder of oxidative phosphorylation
Johannes A. Mayr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
DNA recombination protein-dependent mechanism of homoplasmy and its proposed functions
Takehiko Shibata et al.
MITOCHONDRION (2007)
Mitochondrial dysfunction, free radical generation and cellular stress response in neurodegenerative disorders
Cesare Mancuso et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2007)
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
Mirko Koppen et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
Lucia Valente et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
Isabella Wimplinger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
Enrico Baruffini et al.
HUMAN MOLECULAR GENETICS (2006)
The complete yeast mitochondrial proteome: Multidimensional separation techniques for mitochondrial proteomics
Joerg Reinders et al.
JOURNAL OF PROTEOME RESEARCH (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE GENETICS (2006)
Mutation D104G in ANT1 gene:: Complementation study in Saccharomyces cerevisiae as a model system
T Lodi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia
GR Stuart et al.
HUMAN MOLECULAR GENETICS (2006)
The organization and inheritance of the mitochondrial genome
XJ Chen et al.
NATURE REVIEWS GENETICS (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)
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
QF Yan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast
AM Deutschbauer et al.
GENETICS (2005)
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
N Umeda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mitochondrial DNA and disease
S Dimauro et al.
ANNALS OF MEDICINE (2005)
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
F Fontanesi et al.
HUMAN MOLECULAR GENETICS (2004)
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L De Meirleir et al.
JOURNAL OF MEDICAL GENETICS (2004)
The epidemiology of mitochondrial disorders - past, present and future
AM Schaefer et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome
ZM Gu et al.
MOLECULAR MICROBIOLOGY (2004)
Integrative analysis of the mitochondrial proteome in yeast
H Prokisch et al.
PLOS BIOLOGY (2004)
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
L Atorino et al.
JOURNAL OF CELL BIOLOGY (2003)
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
XM Li et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia
XJ Chen
HUMAN MOLECULAR GENETICS (2002)
Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase)
S Aghajanian et al.
BIOCHEMICAL JOURNAL (2002)
The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1•TIM13 complexes in the mitochondrial intermembrane space
S Hofmann et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Blue Native electrophoresis to study mitochondrial and other protein complexes
LGJ Nijtmans et al.
METHODS (2002)
Yeast mitochondrial biogenesis: a model system for humans?
F Foury et al.
CURRENT OPINION IN CHEMICAL BIOLOGY (2002)
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
K Roesch et al.
HUMAN MOLECULAR GENETICS (2002)
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
P de Lonlay et al.
NATURE GENETICS (2001)
Significant expression of functional human type 1 mitochondrial ADP/ATP carrier in yeast mitochondria
T Hatanaka et al.
BIOLOGICAL & PHARMACEUTICAL BULLETIN (2001)
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
P Cavadini et al.
HUMAN MOLECULAR GENETICS (2000)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
C Delettre et al.
NATURE GENETICS (2000)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
NATURE GENETICS (2000)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)
Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast
V Contamine et al.
MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2000)
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
I Valnot et al.
HUMAN MOLECULAR GENETICS (2000)
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