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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …