M. F. Coutinho

发表

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

S. Alves, M. F. Coutinho, J. I. Santos, 2016, International journal of molecular sciences.

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

M. Prata, Luciana Moreira, L. Matos, 2022, Life.

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

S. Macedo-Ribeiro, M. Prata, S. Alves, 2012, Clinical genetics.

Molecular, Biochemical and Functional Studies in Genes Determining Missorting of Lysosomal Proteins

M. F. Coutinho, 2013 .

Glycosaminoglycan Storage Disorders: A Review

S. Alves, M. F. Coutinho, L. Lacerda, 2011, Biochemistry research international.

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

S. Alves, M. F. Coutinho, 2016, Molecular genetics and metabolism.

Molecular Genetics and Metabolism

M. Prata, S. Alves, M. F. Coutinho, 2012 .

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.

M. Prata, S. Alves, M. F. Coutinho, 2012, Molecular genetics and metabolism.

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

A. Dalal, M. Prata, S. Aggarwal, 2014, Gene.

Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: validation at RNA level.

M. Prata, L. Matos, S. Alves, 2020, Human gene therapy.

Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

L. Vilarinho, M. Prata, Diogo Ribeiro, 2020, Diagnostics.

N-Acetylglucosamine-1-Phosphate Transferase, Alpha/Beta and Gamma Subunits (GNPTAB, GNPTG)

M. F. Coutinho, 2014 .

Mucolipidosis II‐Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc‐1‐Phosphotransferase Precursor Protein (GNPTAB)

M. Prata, F. Koch-Nolte, T. Braulke, 2014, Human mutation.

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

M. Prata, S. Alves, M. F. Coutinho, 2012, Molecular genetics and metabolism.

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

L. Matos, S. Alves, M. F. Coutinho, 2016, Diseases.

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

O. P. Mishra, S. Kapoor, R. Prasad, 2017, The Indian Journal of Pediatrics.

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

M. Prata, S. Alves, F. Laranjeira, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

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

M. Prata, F. Wibrand, A. Lund, 2011, JIMD reports.

RNA Therapeutics: How Far Have We Gone?

L. Matos, S. Alves, M. F. Coutinho, 2019, Advances in experimental medicine and biology.

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

E. Martins, L. Vilarinho, Diogo Ribeiro, 2020, International journal of molecular sciences.

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

S. Alves, M. F. Coutinho, I. Ribeiro, 2017, World Journal of Pediatrics.

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

M. Prata, M. C. Pedroso de Lima, L. Matos, 2020, International journal of molecular sciences.

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

L. Matos, S. Alves, M. F. Coutinho, 2015, Gene.

Sortilin and the risk of cardiovascular disease.

M. Bourbon, M. Prata, S. Alves, 2013, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

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

K. Girisha, K. Satyamoorthy, M. Prata, 2012, American journal of medical genetics. Part A.

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

L. Vilarinho, A. Futerman, D. Quelhas, 2020, Molecular genetics & genomic medicine.

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

Luciana Moreira, L. Matos, S. Alves, 2023, Biomedicines.

Luminescence quantum efficiency investigation of low silica calcium aluminosilicate glasses doped with Eu2O3 by thermal lens spectrometry

M. Castro, H. Vargas, M. Baesso, 2006 .

Sortilin and the risk of cardiovascular disease

M. Bourbon, M. Prata, S. Alves, 2013 .

Leukocyte Imbalances in Mucopolysaccharidoses Patients

E. Martins, E. Rodrigues, R. Giugliani, 2023, Biomedicines.

How to Design U1 snRNA Molecules for Splicing Rescue.

L. Matos, S. Alves, M. F. Coutinho, 2022, Methods in molecular biology.

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

Luciana Moreira, S. Alves, M. F. Coutinho, 2023, Biomedicines.

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065

M. F. Coutinho, J. I. Santos, Sandra Alves, 2017, International journal of molecular sciences.

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

D. Sirois-Gagnon, M. Filocamo, M. Prata, 2011, Clinical genetics.