Integrated Genetic Approaches in Therapeutic Discovery for Rare Diseases

Recent papers from Integrated Genetic Approaches in Therapeutic Discovery for Rare Diseases

1. Liver fibrosis negatively impacts in vivo gene transfer to hepatocytes2024
2. Modeling Sarcoglycanopathy in Danio rerioInternational Journal of Molecular Sciences · 2023
3. Successful treatment of severe MSUD in Bckdhb −/− mice with neonatal AAV gene therapyJournal of Inherited Metabolic Disease · 2023
4. A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemiaYearbook of pediatric endocrinology · 2022
5. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in miceNature Communications · 2022
6. Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat CombinationFrontiers in Pharmacology · 2022
7. Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional DeficitsJournal of Neuromuscular Diseases · 2021
8. miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophyScientific Reports · 2020
9. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiencyAnnals of Clinical and Translational Neurology · 2020
10. Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variantsHuman Mutation · 2019
11. Congenital Titinopathy: Comprehensive characterization and pathogenic insightsAnnals of Neurology · 2018
12. Novel mutations in DNAJB6 cause LGMD 1D and distal myopathy in French familiesEuropean Journal of Neurology · 2018
13. Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in MiceJournal of Neuropathology & Experimental Neurology · 2018
14. Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2DHuman Molecular Genetics · 2018
15. Major Advances in the Development of Vectors for Clinical Gene Therapy of Hematopoietic Stem Cells from European Groups over the Last 25 YearsHuman Gene Therapy · 2017
16. Hip region muscular dystrophy and emergence of motor deficits in dysferlin‐deficient Bla/J micePhysiological Reports · 2017
17. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expressionHuman Molecular Genetics · 2017
18. γ‐sarcoglycan and dystrophin mutation spectrum in an Algerian cohortMuscle & Nerve · 2016
19. Exploiting the CRISPR/Cas9 system to study alternative splicingin vivo: application to titinHuman Molecular Genetics · 2016
20. Circulating miRNAs are generic and versatile therapeutic monitoring biomarkers in muscular dystrophiesScientific Reports · 2016