Matos L - Search Results

1

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S. Coutinho MF, et al. Among authors: matos l. Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058. Diagnostics (Basel). 2020. PMID: 31973102 Free PMC article.

2

From bedside to cell biology: a century of history on lysosomal dysfunction.

Coutinho MF, Matos L, Alves S. Coutinho MF, et al. Among authors: matos l. Gene. 2015 Jan 15;555(1):50-8. doi: 10.1016/j.gene.2014.09.054. Epub 2014 Sep 29. Gene. 2015. PMID: 25275857 Review.

3

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

Matos L, Canals I, Dridi L, Choi Y, Prata MJ, Jordan P, Desviat LR, Pérez B, Pshezhetsky AV, Grinberg D, Alves S, Vilageliu L. Matos L, et al. Orphanet J Rare Dis. 2014 Dec 10;9:180. doi: 10.1186/s13023-014-0180-y. Orphanet J Rare Dis. 2014. PMID: 25491247 Free PMC article.

4

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Biochim Biophys Acta. 2015 Dec;1852(12):2712-21. doi: 10.1016/j.bbadis.2015.09.011. Epub 2015 Sep 25. Biochim Biophys Acta. 2015. PMID: 26407519 Free article.

5

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Data Brief. 2015 Oct 28;5:810-7. doi: 10.1016/j.dib.2015.10.011. eCollection 2015 Dec. Data Brief. 2015. PMID: 26693516 Free PMC article.

6

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Matos L, Alves S. Coutinho MF, et al. Among authors: matos l. Diseases. 2016 Nov 9;4(4):33. doi: 10.3390/diseases4040033. Diseases. 2016. PMID: 28933412 Free PMC article. Review.

7

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.

Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S. Matos L, et al. Genes (Basel). 2018 Sep 11;9(9):455. doi: 10.3390/genes9090455. Genes (Basel). 2018. PMID: 30208654 Free PMC article.

8

RNA Therapeutics: How Far Have We Gone?

Coutinho MF, Matos L, Santos JI, Alves S. Coutinho MF, et al. Among authors: matos l. Adv Exp Med Biol. 2019;1157:133-177. doi: 10.1007/978-3-030-19966-1_7. Adv Exp Med Biol. 2019. PMID: 31342441 Review.

9

Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.

Matos L, Vilela R, Rocha M, Santos JI, Coutinho MF, Gaspar P, Prata MJ, Alves S. Matos L, et al. Hum Gene Ther. 2020 Jul;31(13-14):775-783. doi: 10.1089/hum.2020.034. Epub 2020 May 20. Hum Gene Ther. 2020. PMID: 32283951

10

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.

Coutinho MF, Santos JI, S Mendonça L, Matos L, Prata MJ, S Jurado A, Pedroso de Lima MC, Alves S. Coutinho MF, et al. Among authors: matos l. Int J Mol Sci. 2020 Aug 10;21(16):5732. doi: 10.3390/ijms21165732. Int J Mol Sci. 2020. PMID: 32785133 Free PMC article. Review.

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