Results 11 to 20 of about 5,048,722 (239)

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II [PDF]

Molecular Therapy, 2018
Mucopolysaccharidosis II (MPS II) is an X-linked recessive lysosomal storage disease caused by mutations in the iduronate-2-sulfatase (IDS) gene. Since IDS catalyzes the degradation of glycosaminoglycans (GAGs), deficiency in this enzyme leads to ...
Kohtaro Minami
exaly   +3 more sources

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial [PDF]

Molecular Therapy, 2019
Hunter syndrome (mucopolysaccharidosis II [MPS II]), a deficiency of iduronate-2-sulfatase (IDS), causes an accumulation of glycosaminoglycans, giving rise to multiple systemic and CNS symptoms.
Norio Sakai, Kohtaro Minami, Yuji Sato   +2 more
exaly   +3 more sources

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic disease).
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +2 more sources

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. [PDF]

Mol Genet Metab Rep, 2023
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease.
Lau H, Harmatz P, Botha J, Audi J, Link B.   +4 more
europepmc   +2 more sources

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

Mol Ther Methods Clin Dev, 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
Chen N, Ehmann DE, Crooker R, Derakhchan K, Fang X, Felice B, Galbreath EJ, Glaus C, Gu H, Huang Y, Li C, Li X, Liu N, Palmieri K, Simic D, Sypek J, Thompson S, Winkelmann CT, Choi VW.   +18 more
europepmc   +2 more sources

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. [PDF]

Mol Pharm, 2023
Mucopolysaccharidoses (MPSs) make up a group of lysosomal storage diseases characterized by the aberrant accumulation of glycosaminoglycans throughout the body.
Imakiire A, Morimoto H, Suzuki H, Masuda T, Yoden E, Inoue A, Morioka H, Konaka T, Mori A, Shirasaka R, Kato R, Hirato T, Sonoda H, Minami K.   +13 more
europepmc   +2 more sources

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. [PDF]

Mol Genet Metab, 2022
Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study (NCT02055118) investigated the effects of intrathecally administered ...
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group.   +14 more
europepmc   +2 more sources

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II. [PDF]

Mol Genet Metab, 2022
Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II; Hunter syndrome).
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group.   +14 more
europepmc   +2 more sources

Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. [PDF]

Mol Ther Methods Clin Dev, 2022
Deposition of heparan sulfate (HS) in the brain of patients with mucopolysaccharidosis II (MPS II) is believed to be the leading cause of neurodegeneration, resulting in several neurological signs and symptoms, including neurocognitive impairment.
Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K.   +6 more
europepmc   +2 more sources

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. [PDF]

J Inherit Metab Dis
Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and ...
Kampmann C, Lampe C, Wiethoff CM, Arash-Kaps L, Mengel E, Reinke J, Beck M, Hennermann JB, Abu-Tair T.   +8 more
europepmc   +2 more sources