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 …

Presentation and treatments for mucopolysaccharidosis type II (MPS II; Hunter syndrome)

M Stapleton, F Kubaski, RW Mason… - Expert opinion on …, 2017 - Taylor & Francis
ABSTRACT Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X-
linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS …

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I

E Kakkis, M McEntee, C Vogler, S Le, B Levy… - Molecular genetics and …, 2004 - Elsevier
Enzyme replacement therapy (ERT) has been developed for several lysosomal storage
disorders, including mucopolysaccharidosis I (MPS I), and is effective at reducing lysosomal …

A molecular genetics view on Mucopolysaccharidosis Type II

S Verma, S Pantoom, J Petters, AK Pandey… - … Research/Reviews in …, 2021 - Elsevier
Abstract Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder
that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the …

The biosynthesis and catabolism of galactosaminoglycans

V Prabhakar, R Sasisekharan - Advances in Pharmacology, 2006 - Elsevier
Publisher Summary This chapter discusses the structure of galactosaminoglycans (GalAGs),
their roles in biology and medicine, GalAG biosynthesis, their in vivo cellular degradation …

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

SC Jung, ES Park, EN Choi, CH Kim, SJ Kim, DK Jin - Molecules and cells, 2010 - Springer
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked inherited
disorder caused by a deficiency of the enzyme iduronate-2-sulfatase (IDS), which results in …

Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients

PI Dickson, AH Chen - Current pharmaceutical biotechnology, 2011 - ingentaconnect.com
Intrathecal enzyme replacement therapy has been proposed to treat central nervous system
(CNS) disease due to mucopolysaccharidosis type I. Our research has shown that repeated …

Fragments of p97 and uses thereof

TZ Vitalis, R Gabathuler - US Patent 9,364,567, 2016 - Google Patents
AOJJSUZBOXZQNB-TZSSRYMLSA-N Doxorubicin Chemical compound O ([C@ H] 1C
[C@@](O)(CC= 2C (O)= C3C (= O) C= 4C= CC= C (C= 4C (= O) C3= C (O) C= 21) OC) C …

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts

A Friso, R Tomanin, S Alba… - The Journal of Gene …, 2005 - Wiley Online Library
Background Hunter syndrome, mucopolysaccharidosis type II (MPS II), is a X‐linked
inherited disorder caused by the deficiency of the enzyme iduronate‐2‐sulfatase (IDS) …