Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia

scientific article published on 19 December 2015

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1001767845
P356DOI10.1007/S11011-015-9778-6
P698PubMed publication ID26686503

P2093author name stringCorinne Gemperle-Britschgi
Bart P C van de Warrenburg
Ron A Wevers
Jörn Oliver Sass
Leo A J Kluijtmans
Cathérine C S Delnooz
Jathana Vaithilingam
P2860cites workProtein measurement with the Folin phenol reagentQ20900776
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismQ24540665
Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 familyQ27641892
Aminoacylase 1 deficiency associated with autistic behaviorQ34116072
The molecular basis of aminoacylase 1 deficiencyQ34171465
Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Q34377135
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrumQ34457714
Aminoacylase I deficiency: a novel inborn error of metabolism.Q34465848
Neurological findings in aminoacylase 1 deficiencyQ34636590
Aminoacylase 1 is a sphingosine kinase 1-interacting proteinQ40545434
AminoacylasesQ40693491
Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinomaQ42214523
Tracing the origin of L-2-hydroxyglutaric aciduria in a familyQ43253495
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma.Q46231620
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolismQ48160731
Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networkingQ48454732
The distribution of aminoacylase I among mammalian species and localization of the enzyme in porcine kidneyQ73572129
P433issue3
P304page(s)587-592
P577publication date2015-12-19
P1433published inMetabolic Brain DiseaseQ15764352
P1476titleExpanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
P478volume31

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