Gene, 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 eukaryotic hosts.
Carlos Javier Alméciga-Díaz +8 more
openaire +3 more sources
XLIII Conferências de Genética Doutor Jacinto Magalhães: resumo das comunicações [PDF]
, 2014 Suplemento da revista Nascer & Crescer com os resumos dos Posters e Comunicações orais apresentadas durante as XLIII Conferências de Genética Doutor Jacinto Magalhães que decorreu no dia 28 de março de 2014, na cidade do Porto ...
Alvares, S.
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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Вопросы современной педиатрии, 2020 Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze +6 more
doaj +1 more source
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome. [PDF]
Mol Genet Metab Rep, 2023 Laoharawee K +8 more
europepmc +1 more source
A marine bacterial enzymatic cascade degrades the algal polysaccharide ulvan [PDF]
, 2019 International ...
Becher, Dörte +18 more
core +3 more sources
Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer [PDF]
, 2016 Alterations in the balance of mRNA and microRNA (miRNA) expression profiles contribute to the onset and development of colorectal cancer. The regulatory functions of individual miRNA-gene pairs are widely acknowledged, but group effects are largely ...
Biagini, Tommaso +13 more
core +1 more source
Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]
, 2013 The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
core +1 more source
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]
, 2019 Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
Amartino, H. +10 more
core +1 more source
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter’s Syndrome) in a Developing Country: a Case Report [PDF]
, 2015 BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could
AbdulAzeez, A +5 more
core +2 more sources
Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]
, 2014 Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
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