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Disease on EC 3.5.1.14 - N-acyl-aliphatic-L-amino acid amidohydrolase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Amniotic Band Syndrome
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Carcinogenesis
Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor ? (TGF-?) Signaling Pathways.
Carcinoma
Cobalt-activated acylase and aminoacylase I in human malignant tumors.
Differential aminoacylase expression in neuroblastoma.
Effect of the ACY-1 gene on HER2 and TRAIL expression in rectal carcinoma.
Genetic relationship between acylpeptide hydrolase and acylase, two hydrolytic enzymes with similar binding but different catalytic specificities.
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma.
Probing the dimeric structure of porcine aminoacylase 1 by mass spectrometric and modeling procedures.
Carcinoma, Hepatocellular
Aminoacylase 3 Is a New Potential Marker and Therapeutic Target in Hepatocellular Carcinoma.
Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma.
Carcinoma, Non-Small-Cell Lung
Isolation of two contigs of overlapping cosmids derived from human chromosomal band 3p21.1 and identification of 5 new 3p21.1 genes.
Lack of expression of aminoacylase-1 in small cell lung cancer. Evidence for inactivation of genes encoded by chromosome 3p.
Carcinoma, Renal Cell
Differential aminoacylase expression in neuroblastoma.
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma.
Colorectal Neoplasms
Overexpression of aminoacylase 1 is associated with colorectal cancer progression.
Diabetes Mellitus, Type 2
Deciphering the Plasma Proteome of Type 2 Diabetes.
Down Syndrome
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Dystonia
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Hepatitis B
Identification and clinical significance of an elevated level of serum aminoacylase-1 autoantibody in patients with hepatitis B virus-related liver cirrhosis.
Hepatitis C
Aminoacylase 3 binds to and cleaves the N-terminus of the hepatitis C virus core protein.
Herpes Simplex
Integration site(s) of herpes simplex virus type 1 thymidine kinase gene and regional assignment of the gene for aminoacylase-1 in human chromosomes.
Hypersensitivity
Absence of metabotropic glutamate receptor homolog(s) accelerates acetylcholine neurotransmission in Caenorhabditis elegans.
Infections
ZmACY-1 Antagonistically Regulates Growth and Stress Responses in Nicotiana benthamiana.
Intellectual Disability
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum.
Liver Cirrhosis
Identification and clinical significance of an elevated level of serum aminoacylase-1 autoantibody in patients with hepatitis B virus-related liver cirrhosis.
Lung Neoplasms
Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer.
Isolation of two contigs of overlapping cosmids derived from human chromosomal band 3p21.1 and identification of 5 new 3p21.1 genes.
Lack of expression of aminoacylase-1 in small cell lung cancer. Evidence for inactivation of genes encoded by chromosome 3p.
Maple Syrup Urine Disease
Qualitative urinary organic acid analysis: 10 years of quality assurance.
methylcrotonoyl-coa carboxylase deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
n-acyl-aliphatic-l-amino acid amidohydrolase deficiency
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Aminoacylase 1 deficiency associated with autistic behavior.
Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
Aminoacylase I deficiency: a novel inborn error of metabolism.
Four years follow up of ACY1 deficient patient and pedigree study.
Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.
Neurological findings in aminoacylase 1 deficiency.
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Qualitative urinary organic acid analysis: 10 years of quality assurance.
The molecular basis of aminoacylase 1 deficiency.
Neoplasm Metastasis
Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor ? (TGF-?) Signaling Pathways.
Neoplasms
Cobalt-activated acylase and aminoacylase I in human malignant tumors.
Differential aminoacylase expression in neuroblastoma.
Effect of the ACY-1 gene on HER2 and TRAIL expression in rectal carcinoma.
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma.
Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer.
Lack of expression of aminoacylase-1 in small cell lung cancer. Evidence for inactivation of genes encoded by chromosome 3p.
Molecular signatures classify astrocytic gliomas by IDH1 mutation status.
Proteome analysis on an early transformed human bronchial epithelial cell line, BEP2D, after alpha-particle irradiation.
Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma.
Study of the expression and function of ACY1 in patients with colorectal cancer.
Nervous System Diseases
Detection of N-acetyl methionine in human and murine brain and neuronal and glial derived cell lines.
Neuroblastoma
Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor ? (TGF-?) Signaling Pathways.
Differential aminoacylase expression in neuroblastoma.
Obesity
Attenuated metabolism is a hallmark of obesity as revealed by comparative proteomic analysis of human omental adipose tissue.
Differential representation of liver proteins in obese human subjects suggests novel biomarkers and promising targets for drug development in obesity.
Rectal Neoplasms
Effect of the ACY-1 gene on HER2 and TRAIL expression in rectal carcinoma.
Retinoblastoma
Lack of expression of aminoacylase-1 in small cell lung cancer. Evidence for inactivation of genes encoded by chromosome 3p.
Seizures
Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum.
Small Cell Lung Carcinoma
Genetic relationship between acylpeptide hydrolase and acylase, two hydrolytic enzymes with similar binding but different catalytic specificities.
Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer.
Lack of expression of aminoacylase-1 in small cell lung cancer. Evidence for inactivation of genes encoded by chromosome 3p.