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AuthorKrishnamoorthy, Navaneethakrishnan
AuthorZayed, Hatem
Available date2018-02-05T09:07:10Z
Publication Date2016-06-01
Publication NameMetabolic Brain Diseaseen_US
Identifierhttp://dx.doi.org/10.1007/s11011-016-9796-z
CitationKrishnamoorthy, N. & Zayed, H. Metab Brain Dis (2016) 31: 723. https://doi.org/10.1007/s11011-016-9796-z
ISSN0885-7490
URIhttp://hdl.handle.net/10576/6207
AbstractAspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain and is a recognized cause of Canavan disease (CD), which affect children. Although genotype-phenotype correlation have been reported for Canavan disease patients, this relationships is still not straightforward. In this communication, we use molecular modeling to address the structural consequences resulting from the missense variant p.V31F in the ASPA enzyme, which we previously reported in a homozygous form in an Egyptian patient with infantile CD. This modeling suggests that this variant brings significant changes to the catalytic core by introducing structural flexibility through neighbouring key residues. In particular, it provides a molecular explanation for the pathogenic effect of this variant and provides a meaningful genotype-phonotype relationships. The mutational impact appears to have an influence on the function of the protein and initiates molecular event for the mechanism of the disease.
Languageen
PublisherSpringer Verlag
SubjectAspartoacylase
SubjectCanavan disease
SubjectGenotype-phenotype correlation
SubjectMolecular dynamics simulation
SubjectMutational modeling
SubjectStructure-function relationship
TitleStructural modeling of p.V31F variant in the aspartoacylase gene.
TypeArticle
Pagination723–726
Issue Number3
Volume Number31
dc.identifier.essn 1573-7365


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