Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse

Autor: Nicolas Wein, Tatyana A. Vetter, Adeline Vulin, Tabatha R. Simmons, Emma C. Frair, Adrienne J. Bradley, Liubov V. Gushchina, Camila F. Almeida, Nianyuan Huang, Daniel Lesman, Dhanarajan Rajakumar, Robert B. Weiss, Kevin M. Flanigan

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 279-293 (2022)

Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of

Externí odkaz: https://doaj.org/article/937ffb28cf15459caaa9793b8cebec7b

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Autor: Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

Publikováno v: Disease Models & Mechanisms, Vol 13, Iss 2 (2020)

X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mu

Externí odkaz: https://doaj.org/article/b0cb6d4e3d1a46c39a87d324c172427c

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Autor: Nicolas Wein, Kevin M. Flanigan, Robert B. Weiss, Kim L. McBride, Reid Neinast, Nianyuan Huang, Emma C. Frair, Camila F. Almeida

Publikováno v: Journal of Visualized Experiments.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c2d5e680a21098c79520d00b939f20d
https://doi.org/10.3791/61991-v

Skeletal Muscle Injury by Electroporation: A Model to Study Degeneration/Regeneration Pathways in Muscle

Autor: Camila F, Almeida, Mariz, Vainzof

Publikováno v: Methods in molecular biology (Clifton, N.J.). 2063

Skeletal muscle has a remarkable capacity to regenerate after injuries mainly due to a reservoir of precursor cells named satellite cells (SCs), which are responsible for after-birth growth and response to lesions, either by exercise or disease. Upon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7623a900543ff6c8424ad513e18d6152
https://pubmed.ncbi.nlm.nih.gov/31667769

Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies

Autor: Antonio Fernando Ribeiro, Stephanie A. Fernandes, Mariz Vainzof, A.L.F. Santos, Lucas Santos Souza, Camila F. Almeida, P.C.G. Onofre-Oliveira, Danielle A. Guerrieri, Renata Ishiba

Publikováno v: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Satellite cells (SCs) are the main muscle stem cells responsible for its regenerative capacity. In muscular dystrophies, however, a failure of the regenerative process results in muscle degeneration and weakness. To analyze the effect of different de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d989faa696300a31b86749928bfae5ee
https://doi.org/10.1038/s41598-019-48156-7