Kamel Mamchaoui

Adenine base editing correction of LMNA c.745C>T (p.R249W) in congenital muscular dystrophy myoblasts improves cellular phenotype while revealing deleterious p.L248P bystander effects

This study uses adenine base editing to correct the LMNA c.745C>T mutation in myoblasts, showing improved cellular phenotype but also revealing harmful bystander mutations.

A Single Lipid Nanoparticle Formulation Enables Delivery of Diverse RNA Therapeutics to Human Muscle Models of Duchenne Muscular Dystrophy

Detrimental effects of advanced glycation end-products (AGEs) on a human neuromuscular junction co-culture model

This study examines the effects of AGEs on a human neuromuscular junction co-culture model, revealing structural, metabolic, and functional impairments.

Patient-derived 3D engineered human muscle model recapitulates CLCN1 mis-splicing and myotonia in myotonic dystrophy type 1

This paper develops a 3D human muscle model from DM1 patient myoblasts that recapitulates CLCN1 mis-splicing and myotonia, and tests therapeutic responses.

Spatial and Multiomic profiling of muscle regeneration dynamics in Duchenne Muscular Dystrophy

This study identifies NOTCH3 and GLIS3 as contributors to regeneration impairment in Duchenne Muscular Dystrophy using spatial transcriptomics and multiomic profiling.

Duchenne muscular dystrophy is associated with defective membrane repair and dysregulation of annexin-A1/A2 in skeletal muscle

This study identifies defective membrane repair and dysregulated annexin-A1/A2 expression in Duchenne muscular dystrophy, linking extracellular ANXA2 accumulation to disease severity.

Characterisation of DMPK and MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screening

This paper develops a cell-based platform to quantify DMPK and MBNL1 in DM1 models and evaluates therapeutic strategies targeting DMPK.

Early endosome disturbance and endolysosomal pathway dysfunction in Duchenne muscular dystrophy

This study identifies endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

Enhancement of Prednisolone efficacy and safety in Duchenne muscular dystrophy via neutrophil elastase inhibition

This paper shows that combining Alvelestat with Prednisolone improves muscle function and reduces side effects in a DMD mouse model.

DiPRO1 dependent transcriptional and epigenetic regulation distinctly controls the fate of muscle and mesenchymal cancer cells.

This paper identifies DiPRO1 as a regulator of myoblast differentiation and mesenchymal tumor suppression through epigenetic and transcriptional mechanisms, showing its potential as a therapeutic target.

Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

SMA Type II Skeletal Muscle Treated with Nusinersen shows SMN Restoration but Mitochondrial Deficiency.

The paper analyzes RNA-seq data from SMA Type II muscle tissue treated with Nusinersen, finding SMN restoration but persistent mitochondrial dysfunction and cellular stress.