Property Summary

NCBI Gene PubMed Count 43
Grant Count 49
R01 Count 30
Funding $9,805,960.58
PubMed Score 105.10
PubTator Score 140.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (33)

 GWAS Trait (1)

Gene RIF (19)

PMID Text
25003821 Four ASPA missense mutations associated with Canavan disease are structurally characterized.
24632142 Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein.
24036223 report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics
22878930 This is the first case report of ASPA mutation studies in Canavan disease from Indian subcontinent.
22750302 Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver.
22468686 a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
22219087 Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis.
22019069 We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase gene and a 17p13.3 chromosomal microdeletion
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18293939 New structure of human aspartoacylase complexed with a catalytic intermediate analogue, N-phosphonomethyl- l-aspartate, supports a carboxypeptidase-type mechanism for hydrolysis of the amide bond of the substrate, N-acetyl- l-aspartate.
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AA Sequence

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN      1 - 70
RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF     71 - 140
HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN    141 - 210
EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP    211 - 280
VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH                                         281 - 313
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Text Mined References (43)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25003821 2014 Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
24632142 2014 Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?
24036223 2013 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
22878930 2013 Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
22750302 2012 Expression of aspartoacylase (ASPA) and Canavan disease.
22468686 2012 A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
22284616 2012 Expression and localization of myosin-1d in the developing nervous system.
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