Differential diagnosis of lipoic acid synthesis defects

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

(2016) Xènia Ferrer-Cortès et al.   MITOCHONDRION

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

(2015) Yoshihito Kishita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional Analysis ofGLRX5Mutants Reveals Distinct Functionalities of GLRX5 Protein

(2015) Gang Liu et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

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

(2015) François-Guillaume Debray et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2015) A. Lossos et al.   NEUROLOGY

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

(2015) Uwe Ahting et al.   Frontiers in Genetics

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient

(2014) G. Liu et al.   BLOOD

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

(2014) L. C. Burrage et al.   HUMAN MOLECULAR GENETICS

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

(2014) Wolfgang Sperl et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lipoic acid biosynthesis defects

(2014) Johannes A. Mayr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ISCA2mutation causes infantile neurodegenerative mitochondrial disorder

(2014) Zuhair N Al-Hassnan et al.   JOURNAL OF MEDICAL GENETICS

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

The molecular genetics of coenzyme Q biosynthesis in health and disease

(2013) Leila N. Laredj et al.   BIOCHIMIE

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

(2013) Peter R. Baker et al.   BRAIN

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

(2013) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

(2013) Frederic Tort 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

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

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

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

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

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

(2012) Tobias B. Haack 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

Prediction of long-term outcome in glycine encephalopathy: a clinical survey

(2011) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid synthesis and respiration

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

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

(2010) Petter S. Sanaker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

(2010) Angelica Nordin et al.   HUMAN GENETICS

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

(2009) Gittan Kollberg et al.   BRAIN

Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome

(2009) Metodi D. Metodiev et al.   Cell Metabolism

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