A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy

A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy

BackgroundDystrophin is a key protein encoded by the DMD gene, serves as a scaffold linking the cytoskeleton to the extracellular matrix that plays a critical role in muscle contraction, relaxation, and structural integrity. Mutations, particularly single-point amino acid substitutions, can lead to...

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Bibliographic Details
Main Authors: Abdelbaset Mohamed Elasbali, Farah Anjum, Osama A. AlKhamees, Waleed Abu Al-Soud, Mohd Adnan, Anas Shamsi, Md. Imtaiyaz Hassan
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Genetics
Subjects:
deleterious mutations
Duchenne muscular dystrophy
Dystrophin
neuromuscular diseases
personalized medicine
structural genomics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1517707/full
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