The rapidly evolving view of lysosomal storage diseases

G Parenti, DL Medina, A Ballabio - EMBO molecular medicine, 2021 - embopress.org
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

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 …

Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice

JC Ullman, A Arguello, JA Getz, A Bhalla… - Science Translational …, 2020 - science.org
Most lysosomal storage diseases (LSDs) involve progressive central nervous system (CNS)
impairment, resulting from deficiency of a lysosomal enzyme. Treatment of neuronopathic …

Autophagy–lysosomal-associated neuronal death in neurodegenerative disease

RA Nixon - Acta Neuropathologica, 2024 - Springer
Autophagy, the major lysosomal pathway for degrading damaged or obsolete constituents,
protects neurons by eliminating toxic organelles and peptides, restoring nutrient and energy …

[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 …

Innate immunity in mucopolysaccharide diseases

O Mandolfo, H Parker, B Bigger - International Journal of Molecular …, 2022 - mdpi.com
Mucopolysaccharidoses are rare paediatric lysosomal storage disorders, characterised by
accumulation of glycosaminoglycans within lysosomes. This is caused by deficiencies in …

Differences in MPS I and MPS II disease manifestations

CS Hampe, BD Yund, PJ Orchard, TC Lund… - International journal of …, 2021 - mdpi.com
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …

Targeting brain disease in MPSII: preclinical evaluation of IDS-loaded PLGA nanoparticles

L Rigon, M Salvalaio, F Pederzoli, E Legnini… - International journal of …, 2019 - mdpi.com
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of
the enzyme iduronate 2-sulfatase (IDS), which leads to the accumulation of …

Cathepsins in the pathophysiology of mucopolysaccharidoses: new perspectives for therapy

V De Pasquale, A Moles, LM Pavone - Cells, 2020 - mdpi.com
Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the
endolysosomal compartment where they mediate protein degradation and turnover …

Network Pharmacology-Based Strategy for Elucidating the Molecular Basis Forthe Pharmacologic Effects of Licorice (Glycyrrhiza spp.)

J Chen, LF Li, XR Hu, F Wei, S Ma - Frontiers in Pharmacology, 2021 - frontiersin.org
Licorice (Glycyrrhiza spp.) is used widely in traditional Chinese medicine (TCM) due to its
numerous pharmacologic effects. However, the mechanisms of action of the chemical …