Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

(2014) Laura Melchionda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

(2014) Mathilde Nizon et al.   MITOCHONDRION

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

(2014) Alireza Kashani et al.   NEUROGENETICS

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

(2013) Nikhita Ajit Bolar et al.   HUMAN MOLECULAR GENETICS

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

(2012) Xènia Ferrer-Cortès et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr 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

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

(2008) Fanny Mochel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Iron–sulfur cluster biogenesis and human disease

(2008) Tracey A. Rouault et al.   TRENDS IN GENETICS