Results 61 to 70 of about 97,768,729 (189)

Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.

, 1993
Iduronate sulfatase (IDS; EC 3.1.6.13) is a lysosomal enzyme that acts on sulfate groups on C-2 positions of iduronic acid residues of the mucopolysaccharides dermatan and heparan sulfate.
HERMAN G. E, BALLABIO, ANDREA, BALLABIO A., HERMAN GE, DANIELE A, DANIELE, Aurora, FAUST CJ, DI NATALE P, FAUST C. J   +8 more
core   +1 more source

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Molecular Genetics and Metabolism Reports, 2023
Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome.
Xinying Hong, Laura Pollard, Miao He, Michael H. Gelb, Timothy C. Wood   +4 more
doaj   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3140-3150, September 2026.
Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura, Norio Sakai, Hideaki Hirai, Naoko Takasao, Ryo Ibaraki, Tatsuyoshi Yamamoto, Yuji Sato   +6 more
wiley   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, Volume 42, Issue 5, September/October 2026.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Ancestral lysosomal enzymes with increased activity harbor therapeutic potential for treatment of Hunter syndrome

iScience, 2021
Summary: We show the successful application of ancestral sequence reconstruction to enhance the activity of iduronate-2-sulfatase (IDS), thereby increasing its therapeutic potential for the treatment of Hunter syndrome—a lysosomal storage disease caused ...
Natalie M. Hendrikse, Anna Sandegren, Tommy Andersson, Jenny Blomqvist, Åsa Makower, Dominik Possner, Chao Su, Niklas Thalén, Agneta Tjernberg, Ulrica Westermark, Johan Rockberg, Stefan Svensson Gelius, Per-Olof Syrén, Erik Nordling   +13 more
doaj   +1 more source

Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase

, 1987
Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels.
DANIELE, Aurora, DI NATALE P.
core   +1 more source

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit, Oana Marginean, Carmen Duicu, Cristina Campean, Maria Oana Marginean   +4 more
doaj   +1 more source

The Impact of Hydrotherapy on Health‐Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham, Nicole Stockton, Mark Warburton, Calvin Heal, Marie Meehan, Karolina M. Stepien, on behalf of the MPS Society   +6 more
wiley   +1 more source

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Almost all patients with mucopolysaccharidosis (MPS) develop respiratory dysfunction of varying severity during disease progression. While respiratory disease in MPS has traditionally been attributed to upper airway obstruction caused by glycosaminoglycan (GAG) accumulation in the trachea and bronchi, involvement of the intrapulmonary ...
Martin Donnelley, Ronan Smith, Patricia Cmielewski, Nicole Reyne, Piraveen Pirakalathanan, Nina Eikelis, Kris Nilsen, Jennie Louise, Kate Barratt, Jessica Logan, Ben Ung, David Parsons, Doug Brooks, Sandra Orgeig, Emma Parkinson‐Lawrence   +14 more
wiley   +1 more source