Related references
Note: Only part of the references are listed.Cellular Pathophysiological Consequences of BCS1L Mutations in Mitochondrial Complex III Enzyme Deficiency
Maria Moran et al.
HUMAN MUTATION (2010)
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
Heike Kotarsky et al.
MITOCHONDRION (2010)
Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects
Erika Fernandez-Vizarra et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Respiratory-chain diseases related to complex III deficiency
Paule Benit et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (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)
The pathophysiology of mitochondrial disease as modeled in the mouse
Douglas C. Wallace et al.
GENES & DEVELOPMENT (2009)
Capacity of oxidative phosphorylation in human skeletal muscle New perspectives of mitochondrial physiology
Erich Gnaiger
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2009)
Activation of the Human Contact System on Neutrophil Extracellular Traps
Sonja Oehmcke et al.
JOURNAL OF INNATE IMMUNITY (2009)
Functional Analysis of Yeast bcs1 Mutants Highlights the Role of Bcs1p-Specific Amino Acids in the AAA Domain
Cecile Nouet et al.
JOURNAL OF MOLECULAR BIOLOGY (2009)
Multisystem manifestations of mitochondrial disorders
Stefano Di Donato
JOURNAL OF NEUROLOGY (2009)
Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
M. Carmen Gil-Borlado et al.
MITOCHONDRION (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)
Mitochondrial disorders in the nervous system
Salvatore DiMauro et al.
ANNUAL REVIEW OF NEUROSCIENCE (2008)
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy
Shane E. Kruse et al.
CELL METABOLISM (2008)
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L
Shoko Tamai et al.
JOURNAL OF CELL SCIENCE (2008)
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
Vineta Fellman et al.
JOURNAL OF HUMAN GENETICS (2008)
Mouse models of oxidative phosphorylation dysfunction and disease
Uma D. Vempati et al.
METHODS (2008)
Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies
F. Diaz et al.
GUT (2008)
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes
J. Andrew Pospisilik et al.
CELL (2007)
Evolutionarily conserved mammalian adenine nucleotide translocase 4 is essential for spermatogenesis
Jeffrey V. Brower et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Identification and characterization of cytochrome bc1 subcomplexes in mitochondria from yeast with single and double deletions of genes encoding cytochrome bc1 subunits
Vincenzo Zara et al.
FEBS JOURNAL (2007)
Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease
Hirokazu Fukui et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Role of mitochondria in non-alcoholic fatty liver disease
Dominique Pessayre
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2007)
Effect of myxothiazol on Leydig cell steroidogenesis: Inhibition of luteinizing hormone-mediated testosterone synthesis but stimulation of basal steroidogenesis
Andrew S. Midzak et al.
ENDOCRINOLOGY (2007)
Mitochondrial hepatopathies: Advances in genetics and pathogenesis
Way S. Lee et al.
HEPATOLOGY (2007)
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
Erika Fernandez-Vizarra et al.
HUMAN MOLECULAR GENETICS (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)
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency
F Diaz et al.
HUMAN MOLECULAR GENETICS (2005)
Respiratory complex III is required to maintain complex I in mammalian mitochondria
R Acín-Pérez et al.
MOLECULAR CELL (2004)
The epidemiology of mitochondrial disorders - past, present and future
AM Schaefer et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
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)
Architecture of the Qo site of the cytochrome bc1 complex probed by superoxide production
FL Muller et al.
BIOCHEMISTRY (2003)
Powerful cyclosporin inhibition of calcium-induced permeability transition in brain mitochondria
MJ Hansson et al.
BRAIN RESEARCH (2003)
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload
V Fellman
BLOOD CELLS MOLECULES AND DISEASES (2002)
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)
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant
V Fellman et al.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2002)
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE)
J Rapola et al.
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE (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)
Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases
B Korzeniewski et al.
BIOCHEMICAL JOURNAL (2001)
Mitochondria in steatohepatitis
D Pessayre et al.
SEMINARS IN LIVER DISEASE (2001)
Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases
R Rossignol et al.
BIOCHEMICAL JOURNAL (2000)
Share Paper
