The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

(2010) María Morán et al.   HUMAN MUTATION

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

(2010) Heike Kotarsky et al.   MITOCHONDRION

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene

(2009)   CLINICAL GENETICS

The pathophysiology of mitochondrial disease as modeled in the mouse

(2009) D. C. Wallace et al.   GENES & DEVELOPMENT

Capacity of oxidative phosphorylation in human skeletal muscle

(2009) Erich Gnaiger   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Activation of the Human Contact System on Neutrophil Extracellular Traps

(2009) Sonja Oehmcke et al.   Journal of Innate Immunity

Functional Analysis of Yeast bcs1 Mutants Highlights the Role of Bcs1p-Specific Amino Acids in the AAA Domain

(2009) Cécile Nouet et al.   JOURNAL OF MOLECULAR BIOLOGY

Multisystem manifestations of mitochondrial disorders

(2009) Stefano Di Donato   JOURNAL OF NEUROLOGY

Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

(2009) M. Carmen Gil-Borlado et al.   MITOCHONDRION

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

(2009) Alberto Blázquez et al.   NEUROMUSCULAR DISORDERS

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects

(2008) Erika Fernández-Vizarra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Respiratory-chain diseases related to complex III deficiency

(2008) Paule Bénit et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L

(2008) S. Tamai et al.   JOURNAL OF CELL SCIENCE

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

(2008) Vineta Fellman et al.   JOURNAL OF HUMAN GENETICS

Mouse models of oxidative phosphorylation dysfunction and disease

(2008) Uma D. Vempati et al.   METHODS