Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment

F D'Avanzo, L Rigon, A Zanetti, R Tomanin - International journal of …, 2020 - mdpi.com
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …

Pathogenesis of mucopolysaccharidoses, an update

S Fecarotta, A Tarallo, C Damiano, N Minopoli… - International Journal of …, 2020 - mdpi.com
The recent advancements in the knowledge of lysosomal biology and function have
translated into an improved understanding of the pathophysiology of …

[HTML][HTML] Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses

V De Pasquale, LM Pavone - … et Biophysica Acta (BBA)-Molecular Basis of …, 2019 - Elsevier
Heparan sulfate proteoglycans (HSPGs) are complex carbohydrate-modified proteins
ubiquitously expressed on cell surfaces, extracellular matrix and basement membrane of …

Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders

M Placci, MI Giannotti, S Muro - Advanced drug delivery reviews, 2023 - Elsevier
Lysosomes play a central role in cellular homeostasis and alterations in this compartment
associate with many diseases. The most studied example is that of lysosomal storage …

Lysosomal positioning diseases: beyond substrate storage

G Scerra, V De Pasquale, M Scarcella… - Open …, 2022 - royalsocietypublishing.org
Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders
characterized by lysosomal dysfunctions due to undegraded substrate accumulation. They …

Zebrafish models for human skeletal disorders

M Marí-Beffa, AB Mesa-Román, I Duran - Frontiers in Genetics, 2021 - frontiersin.org
In 2019, the Nosology Committee of the International Skeletal Dysplasia Society provided an
updated version of the Nosology and Classification of Genetic Skeletal Disorders. This is a …

Genome-wide association study and genomic prediction of tolerance to acute hypoxia in rainbow trout

M Prchal, J D'Ambrosio, H Lagarde, D Lallias, P Patrice… - Aquaculture, 2023 - Elsevier
Hypoxia is one of the major threats to the aquaculture sector resulting in substantial
economic losses to the fish farmers. Thus, tolerance to hypoxia is of high economic interest …

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes

L Badenetti, R Manzoli, M Trevisan, F D'Avanzo… - Scientific Reports, 2023 - nature.com
Multiple complex intracellular cascades contributing to Hunter syndrome (
mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the …

Gene therapy for mucopolysaccharidosis type II—a review of the current possibilities

P Zapolnik, A Pyrkosz - International Journal of Molecular Sciences, 2021 - mdpi.com
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation
in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation …

Recent trends in mucopolysaccharidosis research

H Kobayashi - Journal of human genetics, 2019 - nature.com
Mucopolysaccharidosis (MPS) is a group of inherited conditions involving metabolic
dysfunction. Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan …