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Analysis of the autophagic pathway in the dystrophic muscle

Grant number: 15/18130-3
Support type:Scholarships in Brazil - Master
Effective date (Start): November 01, 2015
Effective date (End): January 31, 2017
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Mariz Vainzof
Grantee:Stephanie de Alcântara Fernandes
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID


The muscle tissue is characterized by its regeneration capacity when afected by adverse conditions, such as observed in muscular dystrophies. The muscular dystrophies are progressive genetic disorders that affect muscle and can be caused by defects in proteins such as dystrophin, large and disferlin, which are proteins located or associated with the muscle membrane. Additionally, other diseases that affect this tissue can be related to defects in other compartments or cellular pathways, for example, autophagy alterations. The autophagy is a natural cellular process that is responsible for the degradation of proteins and damaged organelles to replenish nutrients when they are needed. This process is deregulated in a huge number of diseases, as a primary defect in the pathway or as a secondary effect, consequence of another alterations in the tissue. Recent work has been showing that in disorders involving the muscle this process is affected and that its modulation could have therapeutical benefits. The aim of this project is to analyze how autophagy is regulated in animal models for muscular dystrophies with distinct molecular defects, and to compare with the findings in a normal muscle that is subjected to a degeneration and regeneration process induced by eletroporation. Besides that, autophagy will be evaluated in a patient with a primary defect in a gene involved in the autophagic pathway, to suggest possible therapeutic targets.

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
FERNANDES, STEPHANIE A.; ALMEIDA, CAMILA F.; SOUZA, LUCAS S.; LAZAR, MONIZE; ONOFRE-OLIVEIRA, PAULA; YAMAMOTO, GUILHERME L.; NOGUEIRA, LETICIA; TASAKI, LETICIA Y.; CARDOSO, RAFAELA R.; PAVANELLO, RITA C. M.; SILVA, HELGA C. A.; FERRARI, MERARI F. R.; BIGOT, ANNE; MOULY, VINCENT; VAINZOF, MARIZ. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. Disease Models & Mechanisms, v. 13, n. 2, SI FEB 2020. Web of Science Citations: 2.
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
FERNANDES, Stephanie de Alcântara. Analysis of the autophagic pathway in the dystrophic muscle. 2017. Master's Dissertation - Universidade de São Paulo (USP). Instituto de Biociências São Paulo.

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