Results 51 to 60 of about 5,730 (195)

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
doaj   +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

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +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

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
doaj   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Arylsulfatase K is the Lysosomal 2‑Sulfoglucuronate Sulfatase [PDF]

, 2017
The degradation of glycosaminoglycans (GAGs) involves a series of exolytic glycosidases and sulfatases that act sequentially on the nonreducing end of the polysaccharide chain.
Roger Lawrence (1444714), Esko, Jeffrey D, Afd Chemical Biology and Drug Discovery, Dhamale, Omkar P., Chemical Biology and Drug Discovery, Shah, Bhawal A., William C. Lamanna (3643651), Torben Lübke (3643654), Wiegmann, Elena M, Dhamale, Omkar P, Lübke, Torben, Bhahwal A. Shah (2178242), Geert-Jan Boons (212062), Dierks, Thomas, Thomas Dierks (109391), Jeffrey D. Esko (216312), Lamanna, William C., Shah, Bhahwal A, Lawrence, Roger, Esko, Jeffrey D., Wiegmann, Elena, Elena M. Wiegmann (3643657), Kanar Al-Mafraji (2334448), Al-Mafraji, Kanar, Lübke, Torben ; https://orcid.org/, Lamanna, William C, Omkar P. Dhamale (3643648), Boons, Geert-Jan   +27 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Correlation and linear regression of I2S concentrations measured by ELISA and bioactivity (4-MUF) assays.

, 2016
4-MUF, 4-methylumbelliferyl-α-iduronate-2-sulfate; ELISA, enzyme linked immunosorbent assay; I2S, iduronate-2-sulfatase.
Bob Crooker (3232881), Kathleen J. Palmieri (3232884), Thomas G. McCauley (716871), Eilish Brown (3232878), Jou-Ku Chung (716869)   +4 more
core   +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