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 …

Lysosomal storage diseases—the horizon expands

RMN Boustany - Nature Reviews Neurology, 2013 - nature.com
Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …

Mucopolysaccharidoses: cellular consequences of glycosaminoglycans accumulation and potential targets

AF Leal, E Benincore-Flórez, E Rintz… - International Journal of …, 2022 - mdpi.com
Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage
disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs) …

Less is more: substrate reduction therapy for lysosomal storage disorders

MF Coutinho, JI Santos, S Alves - International journal of molecular …, 2016 - mdpi.com
Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders,
usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal …

Newborn screening and diagnosis of mucopolysaccharidoses

S Tomatsu, T Fujii, M Fukushi, T Oguma… - Molecular genetics and …, 2013 - Elsevier
Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities
needed to degrade glycosaminoglycans (GAGs), which are long unbranched …

[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 …

Therapeutic options for mucopolysaccharidoses: current and emerging treatments

K Sawamoto, M Stapleton, CJ Alméciga-Díaz… - Drugs, 2019 - Springer
Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of
one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). Although …

The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation

M Moskot, S Montefusco… - Journal of Biological …, 2014 - ASBMB
Genistein (5, 7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one) has been
previously proposed as a potential drug for use in substrate reduction therapy for …

Genistein in Sanfilippo disease: a randomized controlled crossover trial

J De Ruijter, MJ Valstar, M Narajczyk… - Annals of …, 2012 - Wiley Online Library
Objective: Sanfilippo disease (mucopolysaccharidosis type III [MPS III]) is a rare
neurodegenerative metabolic disease caused by a deficiency of 1 of the 4 enzymes involved …

Novel therapies for mucopolysaccharidosis type III

B Seker Yilmaz, J Davison, SA Jones… - Journal of inherited …, 2021 - Wiley Online Library
Abstract Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan
inherited lysosomal storage disease and one of the most common MPS subtypes. The …