Paulo Gaspar

Porto, Portugal

Last Updated: 09/26/2026

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Found 25 publications

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.

Journal: Orphanet journal of rare diseases

Published: March 11, 2026

LIMP-2 deficiency-associated glycolipid abnormalities in mice.

LIMP-2 deficiency-associated glycolipid abnormalities in mice.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: April 08, 2025

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Journal: International journal of molecular sciences

Published: January 27, 2025

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Journal: International journal of molecular sciences

Published: January 03, 2025

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.

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.

Journal: International journal of molecular sciences

Published: December 29, 2023

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

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

Journal: Human gene therapy

Published: April 15, 2020

Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Journal: Journal of Parkinson's disease

Published: October 09, 2019

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

Journal: American heart journal

Published: August 22, 2019

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.

Journal: Molecular genetics and metabolism

Published: May 29, 2019

Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages.

Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages.

Journal: International journal of molecular sciences

Published: December 07, 2018

Serum lipid alterations in GBA-associated Parkinson's disease.

Serum lipid alterations in GBA-associated Parkinson's disease.

Journal: Parkinsonism & related disorders

Published: April 19, 2017

Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards.

Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 08, 2016

Showing 1-12 of 25

Last Updated: 09/26/2026