Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
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Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidaseA multi-component classifier for nonalcoholic fatty liver disease (NAFLD) based on genomic, proteomic, and phenomic data domains.Aminoacylase 1 deficiency associated with autistic behavior.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.Toward understanding the genetic basis of adaptation to high-elevation life in poikilothermic species: a comparative transcriptomic analysis of two ranid frogs, Rana chensinensis and R. kukunoris.Extensive aspartoacylase expression in the rat central nervous system.Dissecting the pretransitional conformational changes in aminoacylase I thermal denaturationAn Enlarged Profile of Uremic Solutes.Serum aminoacylase-1 is a novel biomarker with potential prognostic utility for long-term outcome in patients with delayed graft function following renal transplantation.Detection of N-acetyl methionine in human and murine brain and neuronal and glial derived cell lines.Inhibition of aminoacylase 3 protects rat brain cortex neuronal cells from the toxicity of 4-hydroxy-2-nonenal mercapturate and 4-hydroxy-2-nonenal.Study of the expression and function of ACY1 in patients with colorectal cancerDefective ACY1 causes encephalopathyGlutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.Scientific Opinion on application (EFSA‐GMO‐UK‐2007‐43) for the placing on the market of herbicide tolerant genetically modified soybean 356043 for food and feed uses, import and processing under Regulation (EC) No 1829/2003 from PioneerScientific Opinion on application (EFSA-GMO-UK-2008-53) for the placing on the market of herbicide tolerant genetically modified maize 98140 for food and feed uses, import and processing under Regulation (EC) No 1829/2003 from Pioneer Overseas Cor...Unique metabolomic signature associated with hepatorenal dysfunction and mortality in cirrhosis.Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.Defective ACY1 does not hydrolyse mercapturic acidsCerebral Organic Acid Disorders and Other Disorders of Lysine CatabolismSTAT3 Cooperates With Phospholipid Scramblase 2 to Suppress Type I Interferon Response
P2860
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P2860
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations in ACY1, the gene en ...... vel inborn error of metabolism
@nl
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@ast
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@en
type
label
Mutations in ACY1, the gene en ...... vel inborn error of metabolism
@nl
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@ast
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@en
prefLabel
Mutations in ACY1, the gene en ...... vel inborn error of metabolism
@nl
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@ast
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@en
P2093
P2860
P50
P356
P1476
Mutations in ACY1, the gene en ...... el inborn error of metabolism.
@en
P2093
Andreas Kispert
Jorn Oliver Sass
Judit Horvath
Manfred Fliegauf
Niki Tomas Loges
Polly Weiler
Ralf Moebus
Susanne Schweitzer-Krantz
Udo Engelke
Verena Mohr
P2860
P304
P356
10.1086/500563
P407
P577
2006-01-18T00:00:00Z