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

This study provides novel insights into the molecular mechanisms of DMD, highlighting specific mutations that disrupt Dystrophin's solubility and function. These findings could inform future therapeutic strategies targeting Dystrophin mutations to address DMD pathogenesis.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-02-04
DOI
https://doi.org/10.3389/fgene.2025.1517707
Primary Topic
Muscle Physiology and Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Anas Shamsi, Farah Anjum, Abdelbaset Mohamed Elasbali, Mohd Adnan et al.
Frontiers in Genetics
Muscle Physiology and Disorders
article

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

Anas Shamsi, Farah Anjum, Abdelbaset Mohamed Elasbali, Mohd Adnan, Md. Imtaiyaz Hassan, Waleed Abu Al‐Soud, Osama A. AlKhamees
article en

Abstract

This study provides novel insights into the molecular mechanisms of DMD, highlighting specific mutations that disrupt Dystrophin's solubility and function. These findings could inform future therapeutic strategies targeting Dystrophin mutations to address DMD pathogenesis.

Frontiers in GeneticsVol. 16
Taif University (SA), Ajman University (AE), Jouf University (SA), Imam Mohammad ibn Saud Islamic University (SA), University of Ha'il (SA), Jamia Millia Islamia (IN)
Council of Scientific and Industrial Research, India, Taif University, Ajman University
Openalex Percentile: Top 98%
Muscle Physiology and Disorders
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