List of works - Sandra Alves

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

scientific article published on 20 July 2012

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

scientific article published on 01 September 2020

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

scientific article published on 14 February 2011

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

scientific article

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

scientific article published on May 2007

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

scientific article

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

scientific article published in June 2006

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

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

scientific article published on 25 September 2015

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

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity

scientific article published on August 2001

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 analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

scientific article published on 23 January 2008

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

scientific article published on 25 October 2006

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

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

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

scientific article published on 28 March 2014

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

scientific article published on 01 January 2000

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

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

scientific article published in August 2002

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

scientific article published in August 2005

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

scientific article published on 10 December 2014

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

scientific article

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 Sandra Alves

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

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

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

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

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

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Glycosaminoglycan storage disorders: a review

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

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity

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 analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

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.

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

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

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

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

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

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