Results 81 to 90 of about 2,842 (215)

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

Scientific Reports, 2023
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada   +4 more
doaj   +1 more source

Development of the multi-attribute Adolescent Health Utility Measure (AHUM) [PDF]

, 2012
Objective Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions.
Beusterien, K. M., Brazier, J., Pang, F., Yeung, J-E.   +3 more
core   +2 more sources

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical Genetics, Volume 106, Issue 4, Page 505-511, October 2024.
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Siying Lin, Anthony G. Robson, Dorothy A. Thompson, Karolina M. Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C. Black, Michel Michaelides, Omar A. Mahroo, Gavin Arno, Andrew R. Webster   +14 more
wiley   +1 more source

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

BMC Medical Genomics, 2021
Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS).
Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao   +13 more
doaj   +1 more source

A biological guide to glycosaminoglycans: current perspectives and pending questions

The FEBS Journal, Volume 291, Issue 15, Page 3331-3366, August 2024.
Mammalian glycosaminoglycans, except hyaluronan, are sulfated polysaccharides that are covalently attached to core proteins to form proteoglycans. They contribute to the organization of the extracellular matrix and are displayed at the cell surface where they regulate the availability and activity of cytokines and growth factors and cell signaling ...
Sylvie Ricard‐Blum, Romain R. Vivès, Liliana Schaefer, Martin Götte, Rosetta Merline, Alberto Passi, Paraskevi Heldin, Ana Magalhães, Celso A. Reis, Spyros S. Skandalis, Nikos K. Karamanos, Serge Perez, Dragana Nikitovic   +12 more
wiley   +1 more source

Establishment of a integrative multi-omics expression database CKDdb in the context of chronic kidney disease (CKD) [PDF]

, 2017
Complex human traits such as chronic kidney disease (CKD) are a major health and financial burden in modern societies. Currently, the description of the CKD onset and progression at the molecular level is still not fully understood.
Fernandes, Marco, Husi, Holger
core   +1 more source

Bioevaluation Of Heparin Oligosaccharides In Correcting Iduronate-2-Sulfatase Deficiency

, 2020
Introduction Mucopolysaccharidoses Type II is caused by an X-linked mutation in IDS gene which produce an enzyme called iduronate 2-sulfatase (IDS) that is essential for the breakdown of glycosaminoglycans. Lack of IDS enzyme activity leads to the accumulation of heparan sulfate and dermatan sulfate within the lysosomes.
Nordin, Fatimah Diana Amin, Affandi Omar, Balqis Kamarudin, Julaina Abdul Jalil   +3 more
openaire   +1 more source

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer [PDF]

Gene Therapy, 1997
Hunter syndrome is a lethal lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase and characterized by severe skeletal and neurological symptoms. Only symptomatic treatments are available and, although bone marrow transplantation has been suggested, no encouraging results have been obtained so far.
DIFRANCESCO C, CRACCO C, TOMANIN R, PICCI L, VENTURA L, ZACCHELLO, FRANCO, DINATALE P, ANSON DS, HOPWOOD JJ, GRAHAM FL, SCARPA, MAURIZIO   +10 more
openaire   +3 more sources

Intellectual disability: A potentially treatable condition

Journal of Paediatrics and Child Health, Volume 60, Issue 7, Page 273-278, July 2024.
The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease‐specific treatments to change the trajectory of health and ...
Sarah E Donoghue, David J Amor
wiley   +1 more source

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively‐driven reverse translation framework

Clinical and Translational Science, Volume 17, Issue 4, April 2024.
Abstract A quantitatively‐driven evaluation of existing clinical data and associated knowledge to accelerate drug discovery and development is a highly valuable approach across therapeutic areas, but remains underutilized. This is especially the case for rare diseases for which development is particularly challenging.
Robert D. Latzman, Olivia Campagne, Meera E. Modi, Marta Karas, C. J. Malanga, David A. H. Whiteman   +5 more
wiley   +1 more source