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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit
Johannes A. Mayr et al.
HUMAN MOLECULAR GENETICS (2010)
Yeast Models of Human Mitochondrial Diseases
Antoni Barrientos
IUBMB LIFE (2010)
Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model
Ann Meulemans et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Crystal Structure of the Mg•ADP-inhibited State of the Yeast F1c10-ATP Synthase
Alain Dautant et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Succinate dehydrogenase - Assembly, regulation and role in human disease
Jared Rutter et al.
MITOCHONDRION (2010)
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
Heike Kotarsky et al.
MITOCHONDRION (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)
Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects
Luis C. Lopez et al.
PLOS ONE (2010)
Bioenergetic cost of making an adenosine triphosphate molecule in animal mitochondria
Ian N. Watt et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene
Eyal Shteyer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Loss of function of Sco1 and its interaction with cytochrome c oxidase
Lukas Stiburek et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2009)
The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis
Betn Marbois et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2009)
Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms
Makoto Kawamukai
BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY (2009)
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
M. A. Ramos-Arroyo et al.
CLINICAL GENETICS (2009)
Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
M. Carmen Gil-Borlado et al.
MITOCHONDRION (2009)
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Daniele Ghezzi et al.
NATURE GENETICS (2009)
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient
Alberto Blazques et al.
NEUROMUSCULAR DISORDERS (2009)
F1-dependent translation of mitochondrially encoded Atp6p and Atp8p subunits of yeast ATP synthase
Malgorzata Rak et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Huai-Xiang Hao et al.
SCIENCE (2009)
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
Clotilde Lagier-Tourenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
Ortal Barel 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)
Ubiquinone biosynthesis in Saccharomyces cerevisiae: the molecular organization of O-methylase Coq3p depends on Abc1p/Coq8p
Anja Tauche et al.
FEMS YEAST RESEARCH (2008)
Mapping the functional interaction of Sco1 and Cox2 in cytochrome oxidase biogenesis
Kevin Rigby et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
Vineta Fellman et al.
JOURNAL OF HUMAN GENETICS (2008)
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
Ian M. Morison et al.
NATURE GENETICS (2008)
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
Giovanni Montini et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene
Malgorzata Rak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Saccharomyces cerevisiae Coq9 polypeptide is a subunit of the mitochondrial coenzyme Q biosynthetic complex
Edward J. Hsieh et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (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)
Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology
Malgorzata Rak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome
J. Travis Hinson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Endogenous synthesis of coenzyme Q in eukaryotes
UyenPhuong C. Tran et al.
MITOCHONDRION (2007)
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
W. Sperl et al.
NEUROMUSCULAR DISORDERS (2006)
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
Alistair T. Pagnamenta et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Mitochondrial diseases and genetic defects of ATP synthase
Josef Houstek et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2006)
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
R Horvath et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)
The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration
MH Barros et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Crystal structure of mitochondrial respiratory membrane protein complex II
F Sun et al.
CELL (2005)
Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme
D Smith et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency -: art. no. e28
M Bugiani et al.
JOURNAL OF MEDICAL GENETICS (2005)
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
CM Quinzii et al.
NEUROLOGY (2005)
Cytochrome c oxidase, ligands and electrons
M Brunori et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2005)
Assembly of respiratory complexes I, III, and IV into NADH oxidase supercomplex stabilizes complex I in Paracoccus denitrificans
A Stroh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Metabolism and function of coenzyme Q
M Turunen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2004)
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
MJH Coenen et al.
ANNALS OF NEUROLOGY (2004)
Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase)
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BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
Mitochondrial diseases
S DiMauro
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
CE Oquendo et al.
JOURNAL OF MEDICAL GENETICS (2004)
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
H Antonicka et al.
HUMAN MOLECULAR GENETICS (2003)
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
L De Meirleir et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
The Saccharomyces cerevisiae COQ6 gene encodes a mitochondrial flavin-dependent monooxygenase required for coenzyme Q biosynthesis
P Gin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II
R Van Coster et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
S Haut et al.
HUMAN GENETICS (2003)
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
H Antonicka et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
I Visapää et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Yarrowia lipolytica, a yeast genetic system to study mitochondrial complex I
S Kerscher et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2002)
Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae
MH Barros et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
The Saccharomyces cerevisiae mitochondrial succinate:ubiquinone oxidoreductase
BD Lemire et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2002)
Inborn errors of complex II -: Unusual human mitochondrial diseases
P Rustin et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2002)
Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c
QP Schwarz et al.
GENOMICS (2002)
Pathogenesis of primary defects in mitochondrial ATP synthesis
EA Schon et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2001)
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)
A defect in coenzyme Q biosynthesis is responsible for the respiratory deficiency in Saccharomyces cerevisiae abc1 mutants
TQ Do et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O
MH Barros et al.
FEBS LETTERS (2001)
Identification of a nuclear gene (FMC1) required for the assembly/stability of yeast mitochondrial F1-ATPase in heat stress conditions
L Lefebvre-Legendre et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The Saccharomyces cerevisiae ATP synthase
J Velours et al.
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES (2000)
Structure at 2.3 Å resolution of the cytochrome bc1 complex from the yeast Saccharomyces cerevisiae co-crystallized with an antibody Fv fragment
C Hunte et al.
STRUCTURE (2000)
Supercomplexes in the respiratory chains of yeast and mammalian mitochondria
H Schägger et al.
EMBO JOURNAL (2000)
The α-subunit of the mitochondrial F1 ATPase interacts directly with the assembly factor Atp12p
ZG Wang et al.
EMBO JOURNAL (2000)
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
I Valnot et al.
HUMAN MOLECULAR GENETICS (2000)
Identification of Cox20p, a novel protein involved in the maturation and assembly of cytochrome oxidase subunit 2
K Hell et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis
T Jonassen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
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