Detalhe da pesquisa
1.
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.
Int J Mol Sci
; 25(6)2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542525
2.
Development of Engineered-U1 snRNA Therapies: Current Status.
Int J Mol Sci
; 24(19)2023 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834063
3.
Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.
Int J Mol Sci
; 21(16)2020 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32785133
4.
RNA Therapeutics: How Far Have We Gone?
Adv Exp Med Biol
; 1157: 133-177, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342441
5.
Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065.
Int J Mol Sci
; 18(1)2017 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28106730
6.
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.
Int J Mol Sci
; 17(7)2016 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384562
7.
Restoring TGFß1 pathway-related microRNAs: possible impact in metastatic prostate cancer development.
Tumour Biol
; 35(7): 6245-53, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763824
8.
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.
Biomedicines
; 11(4)2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189853
9.
Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses.
Endocr Metab Immune Disord Drug Targets
; 2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37937567
10.
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.
Life (Basel)
; 12(5)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629276
11.
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.
Diagnostics (Basel)
; 10(2)2020 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31973102
12.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Mol Genet Genomic Med
; 8(11): e1451, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931663
13.
Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.
Diseases
; 4(4)2016 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933412