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A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report

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 activ...

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Автори: Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal
Формат: Artigo
Мова:Inglês
Опубліковано: Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2024-12-01
Серія:Journal of Pediatric Research
Предмети:
aspartoacylase
brain
canavan disease
mutation
myelin
n-acetylaspartate
Онлайн доступ:https://jpedres.org/articles/a-novel-homozygous-variant-in-the-lessemgreateraspartoacylaselessemgreater-gene-causes-canavan-disease-case-report/doi/jpr.galenos.2024.55706
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