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Article

Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.

Molecular therapy : the journal of the American Society of Gene Therapy - 6 Dec 2023

Cataldi Marcela P, Vannoy Charles H, Blaeser Anthony, Tucker Jason D, Leroy Victoria, Rawls Raegan, Killilee Jessalyn, Holbrook Molly C, Lu Qi Long

Abstract excerpt

Mutations in the fukutin-related protein (FKRP) gene cause dystroglycanopathy, with disease severity ranging from mild LGMD2I to severe congenital muscular dystrophy. Recently, considerable progress has been made in developing experimental therapies, with adeno-associated virus (AAV) gene therapy and ribitol treatment demonstrating significant therapeutic effect. However, each treatment has its strengths and...

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Identifiers

PMID: 37919902
DOI: 10.1016/j.ymthe.2023.10.022
PMCID: PMC10727973

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Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.PMID 37919902Read ↗

NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.Semantic proximity Read ↗

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Semantic proximity Read ↗

ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant MiceSemantic proximity Read ↗

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in DystroglycanopathySemantic proximity Read ↗

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant miceSemantic proximity Read ↗

Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene DeliverySemantic proximity Read ↗

Adeno-associated Virus 9 Mediated FKRP Gene Therapy Restores Functional Glycosylation of α-dystroglycan and Improves Muscle FunctionsSemantic proximity Read ↗

Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression.Semantic proximity Read ↗

Inflammation-driven JAK/STAT pathway activation is associated with downregulation of Fkrp expression in mouse skeletal muscleSemantic proximity Read ↗

Mannose-coupled AAV2: a second generation AAV vector for increased retinal gene therapy efficiencySemantic proximity Read ↗

Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Semantic proximity Read ↗

Systemic γ-sarcoglycan AAV gene transfer results in dose-dependent correction of muscle deficits in the LGMD 2C/R5 mouse modelSemantic proximity Read ↗

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