Year: 2024
Type: article
Study design: Case Report
Abstract: Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme.Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.Glu178Lys is the first ever variant reported at the critical active site of aspartoacylase protein and this variant might significantly disrupt substrate interaction.
Authors: Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4405210972