HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Patients with organic acidaemias have an altered thiol status

(2012) Heli Salmi et al.   ACTA PAEDIATRICA

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

Plasma thiol status is altered in children with mitochondrial diseases

(2012) Heli Salmi et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

(2011) Jessie M. Cameron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

(2011) Aleix Navarro-Sastre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quantitative Mapping of Reversible Mitochondrial Complex I Cysteine Oxidation in a Parkinson Disease Mouse Model

(2011) Steven R. Danielson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

(2010) Z.M.A. Chrzanowska-Lightowlers et al.   NEUROMUSCULAR DISORDERS

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

(2009) Inga Harting et al.   BRAIN

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

(2009) S Rahman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

Diagnosis of mitochondrial DNA depletion syndromes

(2008) S. Rahman et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia

(2008) I. Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE