Santos JI - Search Results

1

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: santos ji. 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.

2

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Alves S. Coutinho MF, et al. Among authors: santos ji. Int J Mol Sci. 2016 Jul 4;17(7):1065. doi: 10.3390/ijms17071065. Int J Mol Sci. 2016. PMID: 27384562 Free PMC article. Review.

3

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065.

Coutinho MF, Santos JI, Alves S. Coutinho MF, et al. Among authors: santos ji. Int J Mol Sci. 2017 Jan 17;18(1):178. doi: 10.3390/ijms18010178. Int J Mol Sci. 2017. PMID: 28106730 Free PMC article.

4

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: santos ji. Diseases. 2016 Nov 9;4(4):33. doi: 10.3390/diseases4040033. Diseases. 2016. PMID: 28933412 Free PMC article. Review.

5

RNA Therapeutics: How Far Have We Gone?

Coutinho MF, Matos L, Santos JI, Alves S. Coutinho MF, et al. Among authors: santos ji. 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.

6

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: santos ji. Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058. Diagnostics (Basel). 2020. PMID: 31973102 Free PMC article.

7

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. Among authors: santos ji. 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

8

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: santos ji. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.

9

How to Design U1 snRNA Molecules for Splicing Rescue.

Matos L, Santos JI, Coutinho MF, Alves S. Matos L, et al. Among authors: santos ji. Methods Mol Biol. 2022;2434:89-102. doi: 10.1007/978-1-0716-2010-6_5. Methods Mol Biol. 2022. PMID: 35213011 Free PMC article.

10

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.

Santos JI, Gonçalves M, Matos L, Moreira L, Carvalho S, Prata MJ, Coutinho MF, Alves S. Santos JI, et al. Life (Basel). 2022 Apr 19;12(5):608. doi: 10.3390/life12050608. Life (Basel). 2022. PMID: 35629276 Free PMC article. Review.

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