Results 91 to 100 of about 5,730 (195)

Scleral Thickening as an Etiology for Optic Disc edema in Hunter Syndrome

, 2023
Hunter syndrome is a Type II mucopolysaccharidoses (MPS) metabolic disorder that is defined by a deficiency of iduronate-2-sulfatase, leading to a buildup of glycosaminoglycans (GAGs) and clinical features such as developmental delay and facial ...
Terisa Yiin; Nandini Gandhi; Yin Liu
core  

Anaerobic sulfatase maturase AslB from Escherichia coli activates human recombinant iduronate-2-sulfate sulfatase (IDS) and N -acetylgalactosamine-6-sulfate sulfatase (GALNS)

, 2017
Maturation of type I sulfatases requires the conversion of the cysteine (Cys) or serine (Ser) present in the active site to formylglycine (FGly). This activation represents a limiting step during the production of recombinant sulfatases in bacteria and ...
Bonilla Y.A., Alméciga-Díaz C.J., Espejo-Mojica A.J., Sánchez O.F., Gonzalez-Santos J., Tolosa-Díaz A.D., Pimentel L.N., Patiño J.D., Rodríguez-López A., Yahir Andres Bonilla, Andrés Dario Tolosa-Díaz, Carlos Javier Alméciga-Díaz, Juan D. Patiño, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Oscar F. Sánchez, Janneth Gonzalez-Santos, Luisa Natalia Pimentel   +17 more
core   +1 more source

Mass spectroscopy results of proteins interacting exclusively with POC5^A429V.

, 2019
Five proteins were found to be interacting exclusively with POC5A429. Protein disulfide-isomerase A4, Iduronate 2-sulfatase, Golgi resident protein GCP60, Aminopeptidase B and cDNA FLJ53442; highly similar to Poly (ADP-ribose) polymerase.
Charlotte Zaouter (182378), Hélène Mathieu (6433280), Edward T. Bagu (521821), Amani Hassan (5545277), Sirinart Molidperee (6433283), Isabelle Villemure (84134), Florina Moldovan (58849), Stefan Parent (4282717), Shunmoogum A. Patten (148312), Soraya Barchi (6433286)   +9 more
core   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
祐川, 和子
core  

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report

Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes.
Yusuke Hattori, Jun Kido, Keishin Sugawara, Takaaki Sawada, Shirou Matsumoto, Kimitoshi Nakamura   +5 more
doaj   +1 more source

Mean CSF I2S concentration-time profiles.

, 2015
After intravenous and IT-L dosing, mean CSF I2S concentration-time profiles were determinedwith CSF sampled at the CM level (A) and at the IT-L level (B). Error bars represent standard deviation. CSF, cerebrospinal fluid; I2S, iduronate-2-sulfatase; IT-L,
Hongsheng Xie (716868), Thomas G. McCauley (716871), Jou-Ku Chung (716869), Mary Ann Mascelli (716870)   +3 more
core   +1 more source

The diagnosis and management of mucopolysaccharidosis type II

Italian Journal of Pediatrics
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade ...
Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou   +4 more
doaj   +1 more source

Iduronate 2-Sulfatase [PDF]

, 2020
openaire   +1 more source

Attenuated Hunter Syndrome

, 2015
Hunter Syndrome (HS) is a multisystemic disorder characterized by glycosaminoglycan (GAG) accumulation due to enzyme deficiency of iduronate 2-sulfatase.
Kannan Narayana; Lau Heather; Rachel Nolan; Rucker Janet; Balcer Laura; Galetta Steven
core  

Mucopolysaccharidosis type II and the G374sp mutation

, 2013
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in ...
Martínez-Quintana, E., Rodríguez-González, F.   +1 more
core   +1 more source