Karine Charton
YOU?
Author Swipe
View article: Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy
Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is a severe muscle disease caused by impaired expression of dystrophin. Whereas mitochondrial dysfunction is thought to play an important role in DMD, the mechanism of this dysfunction remains to be clarif…
View article: Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in Duchenne muscular dystrophy
Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in Duchenne muscular dystrophy Open
Background Duchenne Muscular Dystrophy (DMD) is a severe muscle disease caused by impaired expression of dystrophin. While mitochondrial dysfunction is thought to play an important role in DMD, the mechanism of this dysfunction remains to …
View article: Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits
Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits Open
Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L/R12, and Miyoshi Muscular Dystrophy (MMD3). However, the dystrophic phenotype observ…
View article: Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair
Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair Open
Of the many crucial functions of the ER, homeostasis of physiological calcium increase is critical for signaling. Plasma membrane (PM) injury causes a pathological calcium influx. Here, we show that the ER helps clear this surge in cytopla…
View article: A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence
A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence Open
Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large gene transfer. This past decade, many different…
View article: Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A Open
Preclinical studies demonstrate the potential of calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A while avoiding cardiotoxicity.
View article: AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression Open
Limb Girdle Muscular Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene. It has been proposed that FKRP, a ribitol-5-phosphate transferase, is a partici…
View article: Exploiting the CRISPR/Cas9 system to study alternative splicing<i>in vivo</i>: application to titin
Exploiting the CRISPR/Cas9 system to study alternative splicing<i>in vivo</i>: application to titin Open
The giant protein titin is the third most abundant protein in striated muscle. Mutations in its gene are responsible for diseases affecting the cardiac and/or the skeletal muscle. Titin has been reported to be expressed in multiple isoform…
View article: 377. AAV-Mediated Transfer of FKRP Shows Therapeutic Efficacy in a Murine Model of Limb-Girdle Muscular Dystrophy Type 2i, but Requires Tight Control of Gene Expression
377. AAV-Mediated Transfer of FKRP Shows Therapeutic Efficacy in a Murine Model of Limb-Girdle Muscular Dystrophy Type 2i, but Requires Tight Control of Gene Expression Open
Limb Girdle Muscular Dystrophies (LGMD) type 2I, a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene. It has been proposed that FKRP, whose function remains unclear, is a participant …