Cargando…

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

Limb-girdle muscular dystrophy (LGMD) type 2C/R5 results from mutations in the γ-sarcoglycan (SGCG) gene and is characterized by muscle weakness and progressive wasting. Loss of functional γ-sarcoglycan protein in the dystrophin-associated protein complex destabilizes the sarcolemma, leading to even...

Descripción completa

Detalles Bibliográficos
Autores principales:	Seo, Young-Eun, Baine, Stephen H., Kempton, Amber N., Rogers, Oliver C., Lewis, Sarah, Adegboye, Kaitlin, Haile, Alex, Griffin, Danielle A., Peterson, Ellyn L., Pozsgai, Eric R., Potter, Rachael A., Rodino-Klapac, Louise R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Gene & Cell Therapy 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9929442/ https://www.ncbi.nlm.nih.gov/pubmed/36816759 http://dx.doi.org/10.1016/j.omtm.2023.01.004

Ejemplares similares

Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
por: Griffin, Danielle A., et al.
Publicado: (2021)

Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery
por: Carotti, Marcello, et al.
Publicado: (2020)

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D
por: Bianchini, Elisa, et al.
Publicado: (2014)

Expression and function of four AAV-based constructs for dystrophin restoration in the mdx mouse model of Duchenne muscular dystrophy
por: Potter, Rachael A., et al.
Publicado: (2023)

Dose-Escalation Study of Systemically Delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx Mouse Model of Duchenne Muscular Dystrophy
por: Potter, Rachael A., et al.
Publicado: (2021)

Novel γ-sarcoglycan interactors in murine muscle membranes
por: Smith, Tara C., et al.
Publicado: (2022)

In Vitro Glycosylation of the Membrane Protein γ-Sarcoglycan in Nanodiscs
por: Harris, Michael S., et al.
Publicado: (2023)

AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models
por: Sondergaard, Patricia C, et al.
Publicado: (2015)

Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy
por: Potter, Rachael A., et al.
Publicado: (2018)

Evaluation of the Lipid-binding Properties of Recombinant Dystrophin Spectrin-like Repeat Domains R1-3
por: Cooper-Olson, Grace, et al.
Publicado: (2021)

γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin
por: Hack, Andrew A., et al.
Publicado: (1998)

Testing preexisting antibodies prior to AAV gene transfer therapy: rationale, lessons and future considerations
por: Mendell, Jerry R., et al.
Publicado: (2022)

LGMD. Identification, description and classification
por: Angelini, Corrado
Publicado: (2020)

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
por: Diniz, Gulden, et al.
Publicado: (2014)

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene
por: Diniz, G, et al.
Publicado: (2016)

Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer
por: Grose, William E., et al.
Publicado: (2012)

AAV1.NT-3 Gene Therapy for Charcot–Marie–Tooth Neuropathy
por: Sahenk, Zarife, et al.
Publicado: (2014)

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD
por: Wallace, Lindsay M., et al.
Publicado: (2017)

MicroRNA Based Treatment of Cardiomyopathy: Not all Dystrophies are Created Equal
por: Rodino‐Klapac, Louise R.
Publicado: (2013)

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India
por: Ganaraja, Valakunja H., et al.
Publicado: (2021)

Absence of γ-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle
por: Moorwood, Catherine, et al.
Publicado: (2014)

Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse
por: de Greef, Jessica C., et al.
Publicado: (2016)

Membrane Targeting and Stabilization of Sarcospan Is Mediated by the Sarcoglycan Subcomplex
por: Crosbie, Rachelle H., et al.
Publicado: (1999)

Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice
por: Duclos, Franck, et al.
Publicado: (1998)

Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture
por: Chan, Yiu-mo, et al.
Publicado: (1998)

Sarcoglycan Complex: IMPLICATIONS FOR METABOLIC DEFECTS IN MUSCULAR DYSTROPHIES
por: Groh, Séverine, et al.
Publicado: (2009)

Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration
por: Perez-Ortiz, Andric C., et al.
Publicado: (2019)

Current Clinical Applications of In Vivo Gene Therapy with AAVs
por: Mendell, Jerry R., et al.
Publicado: (2021)

LGMD2I in a North American population
por: Kang, Peter B, et al.
Publicado: (2007)

Tail properties and approximate distribution and expansion for extreme of LGMD
por: Huang, Jianwen, et al.
Publicado: (2017)

PROCEEDINGS OF LGMD days MEETING: Prognosis and Treatment in LGMD October 15-17, 2014 IRCCS "S. Camillo", Lido di Venezia (VE), Italy
Publicado: (2014)

Sarcoglycan Complex in Masseter and Sternocleidomastoid Muscles of Baboons: An Immunohistochemical Study
por: Cutroneo, G., et al.
Publicado: (2015)

Different outcome of sarcoglycan missense mutation between human and mouse
por: Henriques, Sara F., et al.
Publicado: (2018)

Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy
por: Matsunari, Hitomi, et al.
Publicado: (2020)

Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors
por: Ribaudo, Giovanni, et al.
Publicado: (2023)

A Journey with LGMD: From Protein Abnormalities to Patient Impact
por: Georganopoulou, Dimitra G., et al.
Publicado: (2021)

Current and Future Approaches to Classify VUSs in LGMD-Related Genes
por: Li, Chengcheng, et al.
Publicado: (2022)

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits
por: Thiruvengadam, Girija, et al.
Publicado: (2021)

δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
por: Blain, Alison M, et al.
Publicado: (2011)

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
por: Lancioni, Alessio, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_p5topcc2ighb7ik4t1ak81eve7