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.
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Arch Biochem Biophys;
735: 109510, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36608914
3.
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Int J Mol Sci;
21(17)2020 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32883051
4.
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
Hum Mol Genet;
24(23): 6826-35, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26385638
5.
Cholesteryl hemiesters alter lysosome structure and function and induce proinflammatory cytokine production in macrophages.
Biochim Biophys Acta Mol Cell Biol Lipids;
1862(2): 210-220, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27793708
6.
MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.
Biomedicines;
11(10)2023 Sep 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37892989
7.
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Genes (Basel);
14(11)2023 Oct 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38002933
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.
Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.
J Biol Chem;
286(7): 5311-8, 2011 Feb 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21173149
11.
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
J Biol Chem;
285(31): 23936-44, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20489197
12.
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Am J Med Genet A;
152A(1): 124-32, 2010 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20034096
13.
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
14.
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
15.
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.
J Pediatr Endocrinol Metab;
29(10): 1225-1228, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27710913
16.
A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair.
J Cell Biol;
213(6): 631-40, 2016 06 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27325790
17.
Mannose phosphorylation in health and disease.
Eur J Cell Biol;
89(1): 117-23, 2010 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19945768