List of works - Maria Francisca Coutinho

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

scientific article published on 20 July 2012

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

scientific article published on 20 October 2011

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

scientific article published on 01 September 2020

From bedside to cell biology: a century of history on lysosomal dysfunction.

scientific article published on 29 September 2014

From rare to common and back again: 60years of lysosomal dysfunction.

scientific article published on 18 August 2015

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

scientific article published on 9 November 2016

Glycosaminoglycan storage disorders: a review

scientific article

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

scientific article published on 27 October 2016

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

scientific article

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

scientific article published on 10 August 2020

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

article

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

article

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

scientific article

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

scientific article

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

scientific article published on 15 September 2020

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

scientific article published on 29 September 2010

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

scientific article published on 28 March 2014

RNA Therapeutics: How Far Have We Gone?

scientific article published on 01 January 2019

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

scientific article published in October 2016

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations

scientific article published on 19 January 2017

List of works by Maria Francisca Coutinho

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

From bedside to cell biology: a century of history on lysosomal dysfunction.

From rare to common and back again: 60years of lysosomal dysfunction.

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

Glycosaminoglycan storage disorders: a review

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

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

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

RNA Therapeutics: How Far Have We Gone?

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations