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The use of a modified U1 snRNA as a therapeutic strategy to correct a 5’ splice-site mutation in Mucopolysaccharidosis IIIC: in vitro steps towards an in vivo approach

Autor: Santos, J.I., Matos, L., Rocha, M., Coutinho, M.F., Prata, M.J., Alves, S.

Genetic therapy directed towards the correction of RNA missplicing is being investigated not only at basic research level but even in late-stage clinical trials. Many mutations that change the normal splicing pattern and lead to aberrant mRNA product

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cec738454f0525584aa707ef6bad60f9
https://hdl.handle.net/10400.18/6792

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Mucopolysaccharidoses in Tunisia: a molecular portrait of allelic heterogeneity and consanguinity

Autor: Coutinho, Maria Francisca, Ouesleti, Souad, Ribeiro, Isaura, Miled, A., Mosbahi, D.S., Alves, Sandra

There are 11 different enzymes involved in the stepwise degradation of glycosaminoglycans (GAGs). Deficiencies in each of those enzymes result in eight different Mucopolysaccharidoses (MPSs), all sharing a series of clinical features, though in varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::257b865e35fcbbd97ce3a72e7bb07a48
https://hdl.handle.net/10400.18/3602

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Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders

Autor: Matos, Liliana, Alves, Sandra

LM was supported by a Grant (SFRH/BD/64592/2009)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::be3c9434495162984fbc8468150fbb89
https://hdl.handle.net/10400.18/3607

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