Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

(2015) A. Lossos et al.   NEUROLOGY

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

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

(2014) Federica Invernizzi et al.   Frontiers in Genetics

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

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

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

A toolkit for graded expression of green fluorescent protein fusion proteins in mammalian cells

(2012) Marcus M. Nalaskowski et al.   ANALYTICAL BIOCHEMISTRY

The role of mitochondria in cellular iron–sulfur protein biogenesis and iron metabolism

(2012) Roland Lill et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

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

Leukoencephalopathies in Mitochondrial Disorders: Clinical and MRI Findings

(2012) Josef Finsterer et al.   JOURNAL OF NEUROIMAGING

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation

(2012) Alex D. Sheftel et al.   MOLECULAR BIOLOGY OF THE CELL

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

Specialized Function of Yeast Isa1 and Isa2 Proteins in the Maturation of Mitochondrial [4Fe-4S] Proteins

(2011) Ulrich Mühlenhoff et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

Lactic Acidosis in a Newborn With Adrenal Calcifications

(2009) Alexandra Zecic et al.   PEDIATRIC RESEARCH