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Article

Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy.

Advances in protein chemistry and structural biology - 1 Jan 2024

Madhana Priya N, Sidharth Kumar N, Udhaya Kumar S, Mohanraj G, Magesh R, Zayed Hatem, Vasudevan Karthick, C George Priya Doss

Abstract excerpt

The arylsulfatase A (ARSA) gene is observed to be deficient in patients with metachromatic leukodystrophy (MLD), a type of lysosomal storage disease. MLD is a severe neurodegenerative disorder characterized by an autosomal recessive inheritance pattern. This study aimed to map the most deleterious mutations at the metal binding sites of ARSA and the amino acids in proximity to the mutated positions. We utilized...

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Source

Identifiers

PMID: 38960474
DOI: 10.1016/bs.apcsb.2023.12.016

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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