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miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy

Autor: Sabater-Arcis M, Bargiela A, Furling D, Artero R

Publikováno v: MOLECULAR THERAPY-NUCLEIC ACIDS
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Molecular Therapy-Nucleic Acids
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)

Unstable CTG expansions in the 3' UTR of the DMPK gene are responsible for myotonic dystrophy type 1 (DM1) condition. Muscle dysfunction is one of the main contributors to DM1 mortality and morbidity. Pathways by which mutant DMPK trigger muscle defe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2e8497c2293b38249ebd6a6a39ce6d2a
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=4296

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CRISPR/Cas9-mediated editing for dominant genetic disorders: efficient excision of trinucleotide repeat expansion in myotonic dystrophy

Autor: Dastidar, S., Ardui, S., Singh, K., Nair, N., Fu, Y., Reyon, D., Samara, E., Gerli, M. F. M., Klein, A. F., DeSchrijver, W., Majumdar, D., Tipanee, J., Seneca, S., Tulalamba, W., Wang, H., Chai, Y. C., In't Veld, P., Furling, D., Tedesco, F. S., Vermeesch, J. R., Joung, J. K., Chuah, M. K., VandenDriessche, T.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::d64f4670d4aa4f13802ff277599a49b5
https://biblio.vub.ac.be/vubir/crisprcas9mediated-editing-for-dominant-genetic-disorders-efficient-excision-of-trinucleotide-repeat-expansion-in-myotonic-dystrophy(6e85b2b3-07af-404e-b79d-b3c83653a6e0).html

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy

Autor: Sicot, G, Servais, L, Dinca, DM, Leroy, A, Prigogine, C, Medja, F, Braz, SO, Huguet-Lachon, A, Chhuon, C, Nicole, A, Gueriba, N, Oliveira, R, Dan, B, Furling, D, Swanson, MS, Guerrera, IC, Cheron, G, Gourdon, G, Gomes-Pereira, M

Publikováno v: Cell reports, 19 (13
Cell Reports
Cell Reports, 2017, 19 (13), pp.2718-2729. ⟨10.1016/j.celrep.2017.06.006⟩
Cell Reports, Vol 19, Iss 13, Pp 2718-2729 (2017)
Cell Reports, Elsevier Inc, 2017, 19 (13), pp.2718-2729. ⟨10.1016/j.celrep.2017.06.006⟩
Cell reports

SUMMARY Brain function is compromised in myotonic dystrophy type 1 (DM1), but the underlying mechanisms are not fully understood. To gain insight into the cellular and molecular pathways primarily affected, we studied a mouse model of DM1 and brains

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1315bc56a33857c8bdda49e8d6c61b15
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/259739