DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
about
Genetic basis of hyperlysinemiaC7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoAThe Convergence of Systems and Reductionist Approaches in Complex Trait AnalysisLoss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationMultilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.DHTKD1 is essential for mitochondrial biogenesis and function maintenance.Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.TCF21 hypermethylation in genetically quiescent clear cell sarcoma of the kidney.Vitamin C modulates the metabolic and cytokine profiles, alleviates hepatic endoplasmic reticulum stress, and increases the life span of Gulo-/- mice.New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.Next-generation sequencing for mitochondrial disordersCurrent concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Lipoic acid biosynthesis defects.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Differential diagnosis of lipoic acid synthesis defects.Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression.Lipoic acid metabolism and mitochondrial redox regulation.α-Ketoadipic Acid and α-Aminoadipic Acid Cause Disturbance of Glutamatergic Neurotransmission and Induction of Oxidative Stress In Vitro in Brain of Adolescent Rats.Studies on the regulation of the human E1 subunit of the 2-oxoglutarate dehydrogenase complex, including the identification of a novel calcium-binding site.Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.The functional genomics laboratory: functional validation of genetic variants.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.DHTKD1 deficiency causes Charcot-Marie-Tooth disease in mice.Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
P2860
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P2860
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@ast
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@en
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@nl
type
label
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@ast
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@en
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@nl
prefLabel
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@ast
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@en
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@nl
P2093
P2860
P1476
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
@en
P2093
Christian Staufner
Elisabeth Graf
Georg F Hoffmann
Johannes Zschocke
Jürgen G Okun
Katharina Danhauser
Stefan Kölker
Sven W Sauer
Thomas Wieland
Thorsten Traub
P2860
P304
P356
10.1016/J.AJHG.2012.10.006
P407
P577
2012-11-08T00:00:00Z