Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights

Background: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency in alpha-L-iduronidase (IDUA), leading to the accumulation of glycosaminoglycans. MPS I presents with a broad spectrum of clinical phenotypes, ranging from severe to mild. This study aimed to iden...

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Bibliographic Details
Main Authors: Mariem Rebai, Yessine Amri, Chaima Sahli, Hajer Foddha, Taieb Messaoud, Hela Boudabous, Hassen Ben Abdennebi, Salima Ferchichi, Latifa Chkioua
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis type I
IDUA gene
Novel mutation
Structural analysis
Enzymatic activity
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000370
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