Results 1 to 10 of about 5,730 (195)

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   +3 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

Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]

PLoS ONE, 2016
Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung, Eilish Brown, Bob Crooker, Kathleen J Palmieri, Thomas G McCauley   +4 more
doaj   +2 more sources

Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]

PLoS ONE, 2015
Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie, Jou-Ku Chung, Mary Ann Mascelli, Thomas G McCauley   +3 more
doaj   +2 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

Label–free quantitative urinary proteomics for non-invasive biomarker discovery in endometrial cancer [PDF]

Frontiers in Medicine
BackgroundEndometrial cancer (EC) is a growing global healthcare concern. The diagnosis of EC involves invasive techniques. There is a pressing need for reliable, non-invasive screening methods utilizing biomarkers that diagnose these patients.MethodsWe ...
Khalid Akkour, Mohamed Rafiullah, Afshan Masood, Ibrahim O. Alanazi, Assim A. Alfadda, Assim A. Alfadda, Assim A. Alfadda, Salini Scaria Joy, Ali Bassi, Hani Alhalal, Eman Alshehri, Maria Arafah, Shahid Nawaz, Hicham Benabdelkamel   +13 more
doaj   +2 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

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review [PDF]

BMC Pediatrics
Objective To highlight the mutations of the iduronate-2-sulfatase (IDS) gene in one family with different origins. Case presentation The proband (case 1) was a 4-year and 7-month-old boy who presented for "inability to fully extend his fingers for over 2
Ruo-Yan Liu, Yang-Li Dai, Chao-Chun Zou
doaj   +2 more sources

Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]

Therapeutic Advances in Rare Disease
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
doaj   +2 more sources

Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze, Natalya V. Zhurkova, Olga B. Gordeeva, Elena V. Komarova, Tatyana E. Privalova, Anastasya I. Rykunova, Marina А. Babaykina   +6 more
doaj   +1 more source