Juliana Ines Santos
Overview
Explore the profile of Juliana Ines Santos including associated specialties, affiliations and a list of published articles.
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13
Citations
133
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Recent Articles
1.
Santos J, Goncalves M, Almeida M, Rocha H, Duarte A, Matos L, et al.
Int J Mol Sci
. 2025 Feb;
26(3).
PMID: 39941041
Mucopolysaccharidosis type IIIC is a neurodegenerative lysosomal storage disorder (LSD) characterized by the accumulation of undegraded heparan sulfate (HS) due to the lack of an enzyme responsible for its degradation:...
2.
Carvalho S, Santos J, Moreira L, Duarte A, Gaspar P, Rocha H, et al.
Int J Mol Sci
. 2024 Mar;
25(6).
PMID: 38542525
Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we...
3.
Carvalho S, Moreira L, Santos J, Gaspar P, Goncalves M, Matos L, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Nov;
PMID: 37937567
Introduction: When it comes to disease modeling, countless models are available for Lysosomal Storage Diseases (LSD). Historically, two major approaches are well-established: in vitro assessments are performed in patient fibroblasts,...
4.
Goncalves M, Santos J, Coutinho M, Matos L, Alves S
Int J Mol Sci
. 2023 Oct;
24(19).
PMID: 37834063
Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression. The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect...
5.
Carvalho S, Santos J, Moreira L, Goncalves M, David H, Matos L, et al.
Biomedicines
. 2023 May;
11(4).
PMID: 37189853
Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further...
6.
Santos J, Goncalves M, Matos L, Moreira L, Carvalho S, Prata M, et al.
Life (Basel)
. 2022 May;
12(5).
PMID: 35629276
Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific...
7.
Encarnacao M, Coutinho M, Cho S, Cardoso M, Ribeiro I, Chaves P, et al.
Mol Genet Genomic Med
. 2020 Sep;
8(11):e1451.
PMID: 32931663
Background: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but...
8.
Coutinho M, Santos J, Mendonca L, Matos L, Prata M, Jurado A, et al.
Int J Mol Sci
. 2020 Aug;
21(16).
PMID: 32785133
More than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches...
9.
Coutinho M, Encarnacao M, Matos L, Silva L, Ribeiro D, Santos J, et al.
Diagnostics (Basel)
. 2020 Jan;
10(2).
PMID: 31973102
Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease...
10.
Coutinho M, Matos L, Santos J, Alves S
Adv Exp Med Biol
. 2019 Jul;
1157:133-177.
PMID: 31342441
In recent years, the RNA molecule became one of the most promising targets for therapeutic intervention. Currently, a large number of RNA-based therapeutics are being investigated both at the basic...