Lipoic acid biosynthesis defects

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

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

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

Defects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis inSaccharomyces cerevisiae

(2013) V. A. Samuli Kursu et al.   MOLECULAR MICROBIOLOGY

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

(2013) Yohan Soreze et al.   Orphanet Journal of Rare Diseases

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

(2013) Shane C. Quinonez et al.   PEDIATRIC NEUROLOGY

Exome sequencing identifiesNFS1deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

(2013) Sali M. K. Farhan et al.   Molecular Genetics & Genomic Medicine

A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

(2012) Wang-yang Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

(2012) Katharina Danhauser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tissue Specificity of a Human Mitochondrial Disease

(2012) Daniel R. Crooks et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Compromised Mitochondrial Fatty Acid Synthesis in Transgenic Mice Results in Defective Protein Lipoylation and Energy Disequilibrium

(2012) Stuart Smith et al.   PLoS One

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

Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis

(2011) Andrzej Witkowski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

(2011) A. Alfares et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

Mitochondrial fatty acid synthesis and respiration

(2010) J. Kalervo Hiltunen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Lipoic acid: energy metabolism and redox regulation of transcription and cell signaling

(2010) Lester Packer et al.   JOURNAL OF CLINICAL BIOCHEMISTRY AND NUTRITION

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy

(2009) Gittan Kollberg et al.   BRAIN

17β-Hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS

(2009) Zhijun Chen et al.   FASEB JOURNAL

Down-regulation of Mitochondrial Acyl Carrier Protein in Mammalian Cells Compromises Protein Lipoylation and Respiratory Complex I and Results in Cell Death

(2009) Dejiang Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lipoic Acid Synthesis and Attachment in Yeast Mitochondria

(2009) Melissa S. Schonauer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

(2008) A. Olsson et al.   HUMAN MOLECULAR GENETICS

Structural Enzymological Studies of 2-Enoyl Thioester Reductase of the Human Mitochondrial FAS II Pathway: New Insights into Its Substrate Recognition Properties

(2008) Zhi-Jun Chen et al.   JOURNAL OF MOLECULAR BIOLOGY

An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing

(2007) Kaija J. Autio et al.   FASEB JOURNAL