A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

A Homozygous Mutation inLYRM7/MZM1LAssociated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

(2013) Federica Invernizzi et al.   HUMAN MUTATION

Mutations inSDHDlead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

(2013) Christopher Benjamin Jackson et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

(2013) Elena J. Tucker et al.   PLoS Genetics

Clinical and biochemical features associated with BCS1L mutation

(2012) Mohammed Al-Owain et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Rieske Iron-Sulfur Protein: Import and Assembly into the Cytochrome Complex of Yeast Mitochondria

(2011) Laura Conte et al.   BIOINORGANIC CHEMISTRY AND APPLICATIONS

A Pathway of Protein Translocation in Mitochondria Mediated by the AAA-ATPase Bcs1

(2011) Nikola Wagener et al.   MOLECULAR CELL

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Therapy for mitochondrial disorders: Little proof, high research activity, some promise

(2011) Anu Suomalainen   Seminars in Fetal & Neonatal Medicine

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

Batteries not included: diagnosis and management of mitochondrial disease

(2009) R. McFarland et al.   JOURNAL OF INTERNAL MEDICINE

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

Respiratory-chain diseases related to complex III deficiency

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