Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
about
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderMitochondria: in sickness and in healthCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Genetic regulation of gene expression in the epileptic human hippocampus.Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies.MicroRNA profiling in the dentate gyrus in epileptic rats: The role of miR-187-3pDefects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis in Saccharomyces cerevisiae.Current experience in testing mitochondrial nutrients in disorders featuring oxidative stress and mitochondrial dysfunction: rational design of chemoprevention trials.Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model.Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell deathAssembly of Lipoic Acid on Its Cognate Enzymes: an Extraordinary and Essential Biosynthetic Pathway.The role of the Saccharomyces cerevisiae lipoate protein ligase homologue, Lip3, in lipoic acid synthesisDevelopment of pharmacological strategies for mitochondrial disorders.Drugs and mitochondrial diseases: 40 queries and answers.Inborn errors of metabolism causing epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Lipoic acid biosynthesis defects.An overview of inborn errors of complex lipid biosynthesis and remodelling.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Identifying anti-growth factors for human cancer cell lines through genome-scale metabolic modeling.Differential diagnosis of lipoic acid synthesis defects.Proteomic profiling identified multiple short-lived members of the central proteome as the direct targets of the addicted oncogenes in cancer cells.Novel compound heterozygous LIAS mutations cause glycine encephalopathy.Caloric Restriction and the Nutrient-Sensing PGC-1α in Mitochondrial Homeostasis: New Perspectives in Neurodegeneration.Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.α-Lipoic acid, functional fatty acid, as a novel therapeutic alternative for central nervous system diseases: A review.Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Poldip2 is an oxygen-sensitive protein that controls PDH and αKGDH lipoylation and activation to support metabolic adaptation in hypoxia and cancer.LIAS:2(4Fe-4S) transforms octanoyl-K107-GCSH to lipoyl-K107-GCSHEffects of alpha-lipoic acid supplementation on growth performance, antioxidant capacity and biochemical parameters for ammonia-exposed broilers.Protein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymesHomozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
P2860
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P2860
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@en
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@nl
type
label
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@en
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@nl
prefLabel
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@en
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@nl
P2093
P2860
P1476
Lipoic acid synthetase deficie ...... bolism, and glycine elevation.
@en
P2093
Christa Bergheim
Christine Fauth
Doris Radmayr
Franz A Zimmermann
Johannes Koch
Johannes Zschocke
Wolfgang Sperl
P2860
P304
P356
10.1016/J.AJHG.2011.11.011
P407
P577
2011-12-01T00:00:00Z