相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
Peter R. Baker et al.
BRAIN (2014)
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency
Sali M. K. Farhan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2014)
Mutations in LYRM4, encoding ironsulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Sze Chern Lim et al.
HUMAN MOLECULAR GENETICS (2013)
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Nikhita Ajit Bolar et al.
HUMAN MOLECULAR GENETICS (2013)
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Tobias B. Haack et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Defects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis in Saccharomyces cerevisiae
V. A. Samuli Kursu et al.
MOLECULAR MICROBIOLOGY (2013)
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Yohan Soreze et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency
Shane C. Quinonez et al.
PEDIATRIC NEUROLOGY (2013)
A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
Wang-yang Xu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
Katharina Danhauser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Tissue Specificity of a Human Mitochondrial Disease DIFFERENTIATION-ENHANCED MIS-SPLICING OF THE Fe-S SCAFFOLD GENE ISCU RENDERS PATIENT CELLS MORE SENSITIVE TO OXIDATIVE STRESS IN ISCU MYOPATHY
Daniel R. Crooks et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Compromised Mitochondrial Fatty Acid Synthesis in Transgenic Mice Results in Defective Protein Lipoylation and Energy Disequilibrium
Stuart Smith et al.
PLOS ONE (2012)
Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes
Jessie M. Cameron et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
Johannes A. Mayr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
Aleix Navarro-Sastre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis
Andrzej Witkowski et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Lipoic acid: energy metabolism and redox regulation of transcription and cell signaling
Lester Packer et al.
JOURNAL OF CLINICAL BIOCHEMISTRY AND NUTRITION (2011)
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares et al.
JOURNAL OF MEDICAL GENETICS (2011)
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
Jennifer L. Sloan et al.
NATURE GENETICS (2011)
Mitochondrial fatty acid synthesis and respiration
J. Kalervo Hiltunen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2010)
Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy
Gittan Kollberg et al.
BRAIN (2009)
17β-Hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS
Zhijun Chen et al.
FASEB JOURNAL (2009)
Down-regulation of Mitochondrial Acyl Carrier Protein in Mammalian Cells Compromises Protein Lipoylation and Respiratory Complex I and Results in Cell Death
Dejiang Feng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Lipoic Acid Synthesis and Attachment in Yeast Mitochondria
Melissa S. Schonauer et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
Fanny Mochel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing
Kaija J. Autio et al.
FASEB JOURNAL (2008)
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
Angelica Olsson et al.
HUMAN MOLECULAR GENETICS (2008)
Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: New insights into its substrate recognition properties
Zhi-Jun Chen et al.
JOURNAL OF MOLECULAR BIOLOGY (2008)
Mechanism and substrate recognition of human holo ACP synthase
Gabor Bunkoczi et al.
CHEMISTRY & BIOLOGY (2007)
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload
Clara Camaschella et al.
BLOOD (2007)
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
S Kure et al.
HUMAN MUTATION (2006)
Lipoyl synthase inserts sulfur atoms into an octanoyl substrate in a stepwise manner
Paid Douglas et al.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION (2006)
Endogenous production of lipoic acid is essential for mouse development
XW Yi et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Cloning, expression, and characterization of the human mitochondrial β-ketoacyl synthase -: Complementation of the yeast cem1 knock-out strain
L Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
A Novel Mutation in the Dihydrolipoamide Dehydrogenase E3 Subunit Gene (DLD) Resulting in an Atypical Form of α-Ketoglutarate Dehydrogenase Deficiency
Marie-Helene Odievre et al.
HUMAN MUTATION (2005)
Htd2p/Yhr067p is a yeast 3-hydroxyacyl-ACP dehydratase essential for mitochondrial function and morphology
AJ Kastaniotis et al.
MOLECULAR MICROBIOLOGY (2004)
HFA1 encoding an organelle-specific acetyl-CoA carboxylase controls mitochondrial fatty acid synthesis in Saccharomyces cerevisiae
U Hoja et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase - Malonyltransferase and acyl carrier protein.
L Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria
T Morikawa et al.
FEBS LETTERS (2001)