Results 21 to 30 of about 5,730 (195)

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates

Molecular Therapy: Methods & Clinical Development, 2023
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by deficient activity of iduronate-2-sulfatase (I2S), leading to pathological accumulation of glycosaminoglycans (GAGs) in tissues. We used iduronate-2-sulfatase knockout
Nancy Chen, David E. Ehmann, Robert Crooker, Katayoun Derakhchan, Xiaodong Fang, Brian Felice, Elizabeth J. Galbreath, Charles Glaus, Hongbo Gu, Yan Huang, Christine Li, Xing Li, Nan Liu, Kathleen Palmieri, Damir Simic, Joseph Sypek, Susan Thompson, Christopher T. Winkelmann, Vivian W. Choi   +18 more
doaj   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II. [PDF]

Br J Clin Pharmacol
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.
Nakamura K, Sakai N, Hirai H, Takasao N, Ibaraki R, Yamamoto T, Sato Y.   +6 more
europepmc   +2 more sources

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

Journal of Pediatric Research, 2021
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly.
Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan   +6 more
doaj   +1 more source

RNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation. [PDF]

FEBS J
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Cabana VC, Bouchard AY, Sénécal AM, Cappadocia L, Lussier MP.   +4 more
europepmc   +2 more sources

Hunter Syndrome: Clinical Case of Early Diagnostics

Педиатрическая фармакология, 2020
Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva   +4 more
doaj   +1 more source

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +1 more source

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 more
doaj   +1 more source

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]

JIMD Rep
ABSTRACT Mucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II
Burton BK, Amartino H, Giugliani R, Kampmann C, Raiman J, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Jain S, Muenzer J.   +10 more
europepmc   +2 more sources

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene

Stem Cell Research, 2022
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare X-linked inherited lysosomal storage disorder presenting a wide genetic heterogeneity. It is due to pathogenic variants in the IDS gene, causing the deficit of the lysosomal hydrolase iduronate 2 ...
Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Rosati   +11 more
doaj   +1 more source

Genomic Correlates of Disease Recovery in Natural Populations of the Sierra Nevada Yellow-Legged Frog (Rana sierrae). [PDF]

Mol Ecol
ABSTRACT In our rapidly changing world, evolution is likely to play an important role in facilitating the resilience of wildlife populations. The Sierra Nevada yellow‐legged frog (Rana sierrae) provides a rare example of recovery following severe declines caused by the amphibian chytrid fungus (Batrachochytrium dendrobatidis).
Byrne AQ, Rothstein AP, Knapp RA, Rosenblum EB.   +3 more
europepmc   +2 more sources