WebMar 3, 2007 · 1. Introduction. Canavan Disease (CD) is a neurodegenerative disorder most prevalent among Ashkenazi Jews that is linked to mutations in the gene encoding aspartoacylase (EC 3.5.1.15; abb. ASPA), which catalyzes deacetylation of N-acetyl-L-aspartate (NAA).Typical CD pathology is marked by early onset macrocephaly, head-lag, … WebMar 22, 2024 · Aspartoacylase deficiency is caused by mutations in the ASPA gene that encodes the enzyme aspartoacylase. The resulting deficiency of aspartoacylase leads …
Aspartoacylase gene knockout in the mouse: impact on reproduction
WebNational Center for Biotechnology Information WebJun 28, 2012 · Mutations in ASPA that lead to loss of enzymatic activity have been identified, and E285A and Y231X are the two predominant mutations that account for 97% of the mutant chromosomes in Ashkenazi ... thakre full movie in hindi
Long-Term Follow-Up After Gene Therapy for Canavan Disease
WebJan 19, 2024 · On the contrary, patients with ASPA mutations that resulted in roughly 10% of wildtype ASPA's enzymatic activity were associated with a juvenile, milder presenting form of the disease (Mendes et ... WebNov 5, 2008 · Aspartoacylase (ASPA) is an oligodendrocyte-restricted enzyme that catalyzes the hydrolysis of neuronally derived N -acetylaspartate (NAA) to acetate and … WebFeb 25, 2024 · Variant summary: The ASPA c.693C>A variant is a nonsense mutation resulting in a premature termination codon. It is predicted to cause a truncated or absent ASPA protein, which is a commonly known mechanism for disease. Mutation taster predicts damaging outcome for this variant. This variant is found in 7/121216 control … thakre movie