Results 1 to 10 of about 2,839 (212)

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase [PDF]

Nature Communications, 2017
Hunter syndrome is a lysosomal storage disease caused by mutations in the enzyme iduronate-2-sulfatase (IDS). Here, the authors present the IDS crystal structure and give mechanistic insights into mutations that cause Hunter syndrome.
Chris H Hill, Aiwu Zhou, Janet E Deane
exaly   +6 more sources

In vivo brain delivery of BBB-enabled iduronate 2-sulfatase in rats [PDF]

Fluids and Barriers of the CNS
Background Iduronate-2-sulfatase (IDS) deficiency (MPS II; Hunter syndrome) is a disorder that exhibits peripheral and CNS pathology. The blood brain barrier (BBB) prevents systemic enzyme replacement therapy (ERT) from alleviating CNS pathology.
Will J. Costain, Arsalan S. Haqqani, Greg Hussack, Henk van Faassen, Etienne Lessard, Binbing Ling, Eric Brunette, Dao Ly, Hung Fang, Jennyfer Bultinck, Steven Geysens, Gwenda Pynaert, Kathleen Piens, Stefan Ryckaert, Franck Fudalej, Wouter Vervecken, Danica Stanimirovic   +16 more
doaj   +4 more sources

Production of active human iduronate-2-sulfatase (IDS) enzyme in Nicotiana benthamiana [PDF]

Scientific Reports
Many strategies have been developed to produce high levels of biologically active recombinant proteins in plants for biopharmaceutical purposes. However, the production of an active form of human iduronate-2-sulfatase (hIDS) for the treatment of Hunter ...
Md Hasif Sinha, Tahrin Mehtab, Mehrnaz Entesari, Hong Hanh Nguyen, Areum Yun, Inhwan Hwang   +5 more
doaj   +4 more sources

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay [PDF]

Heliyon, 2022
Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez, Jorge El-Azaz, Gabriela Alejandra Solarte, Alexander Rodríguez, Luis H. Reyes, Carlos Javier Alméciga-Díaz, Carolina Cardona-Ramírez   +6 more
doaj   +3 more sources

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts [PDF]

International Journal of Neonatal Screening
Mucopolysaccharidosis (MPS) type II, or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Glycosaminoglycan (GAG) accumulation leads to progressive multisystemic involvement, with coarse facial ...
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Can Ficicioglu   +6 more
doaj   +2 more sources

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review [PDF]

Radiology Case Reports, 2021
Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD   +4 more
doaj   +3 more sources

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya [PDF]

Orphanet Journal of Rare Diseases
Background Limited or absent genetic counseling and testing resources in low- and medium-income countries lead to missed or late diagnoses for treatable metabolic conditions with irreversible complications. In some communities, misunderstanding about the
Lucy N. Wainaina Mungai, Charles Njeru, Allan Njoroge, Michuki Maina, Syokau Ilovi, Ruth W. Nduati, Dalton Wamalwa, Beatrice Odongkara, Danny E. Miller   +8 more
doaj   +2 more sources

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]

Diagnostic Pathology, 2011
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Chkioua Latifa, Khedhiri Souhir, Ferchichi Salima, Tcheng Rémy, Chahed Henda, Froissart Roseline, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi   +8 more
doaj   +5 more sources

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation [PDF]

Yonsei Medical Journal, 2011
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study, the frequency of fasting hypoglycemia in patients with MPS II was investigated and changes in accumulation of glycogen and GAG in the hepatocytes of IdS ...
Choe, Yon Ho, Jin, Dong-Kyu, Kim, Su Jin, Lee, Jee Hyun, Paik, Kyung Hoon   +4 more
core   +4 more sources

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients [PDF]

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe.
Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin   +14 more
doaj   +4 more sources