A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
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The Emerging Role of Branched-Chain Amino Acids in Insulin Resistance and MetabolismThe catalytic role of the M2 metal ion in PP2CαBranched-chain amino acids in metabolic signalling and insulin resistanceTwo novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseBranched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.Leucine and protein metabolism in obese Zucker rats.Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.Regulation of PP2Cm expression by miRNA-204/211 and miRNA-22 in mouse and human cellsMetformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.Quantification of branched-chain keto acids in tissue by ultra fast liquid chromatography-mass spectrometry.Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.Alloisoleucine differentiates the branched-chain aminoacidemia of Zucker and dietary obese ratsDataset reporting BCKDK interference in a BCAA-catabolism restricted environment.Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Genetic evidence of a causal effect of insulin resistance on branched-chain amino acid levels.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
P2860
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P2860
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
A novel regulatory defect in t ...... of maple syrup urine disease.
@en
A novel regulatory defect in t ...... of maple syrup urine disease.
@nl
type
label
A novel regulatory defect in t ...... of maple syrup urine disease.
@en
A novel regulatory defect in t ...... of maple syrup urine disease.
@nl
prefLabel
A novel regulatory defect in t ...... of maple syrup urine disease.
@en
A novel regulatory defect in t ...... of maple syrup urine disease.
@nl
P2093
P2860
P356
P1433
P1476
A novel regulatory defect in t ...... e of maple syrup urine disease
@en
P2093
Begoña Merinero
Lourdes R Desviat
Magdalena Ugarte
Mercedes Martínez-Pardo
Pilar Rodríguez-Pombo
Rosa Navarrete
P2860
P304
P356
10.1002/HUMU.22242
P577
2012-12-12T00:00:00Z