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Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]
Korean Journal of Pediatrics, 2012 PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee +7 more
doaj +1 more source
Biological and Pharmaceutical Bulletin, 2000 The hepatoprotecive effects of recombinant human epidermal growth factor (hEGF) on chemically and immunologically induced experimental liver injury models were examined. The hEGF clearly decreased serum transaminase levels in D-galactosamine (D-GalN) and D-GalN/lipopolysaccharide (LPS)-induced liver injury models under sub-lethal conditions.
CHO, Jae Youl +5 more
openaire +3 more sources
Molecular Genetics and Metabolism Reports, 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal +2 more
doaj +1 more source
Nature Communications, 2021 Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin +18 more
doaj +1 more source
, 2022 La mucopolisacaridosis Tipo IVA o síndrome de Morquio es una enfermedad autosómica recesiva causada por la deficiencia de la enzima N galactosamina -6- sulfatasa (GALNS), necesaria para descomponer los glucosaminoglicanos (GAG) queratán sulfato (KS) y ...
Dorsant Ardón, Valérie
core +1 more source
Integrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA. [PDF]
Int J Mol SciMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder causing systemic skeletal dysplasia due to a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS) enzyme activity, leading to the impaired degradation and accumulation of ...
Nidhi F, Tomatsu S.
europepmc +2 more sources
Differential Roles of JNK in ConA/GalN and ConA-Induced Liver Injury in Mice [PDF]
The American Journal of Pathology, 2008 Tumor necrosis factor-alpha-mediated liver injury can be induced by several different means; however, the signaling events and mechanisms of cell death are likely different. We investigated the mechanism of both apoptotic and necrotic hepatocyte cell death as well as the role of c-Jun NH2-terminal kinase (JNK) in the ConA and ConA/D-galactosamine (GalN)
Hong-Min, Ni +4 more
openaire +2 more sources
Hydrogel Delivery Device for the In Vitro and In Vivo Sustained Release of Active rhGALNS Enzyme
Pharmaceuticals, 2023 Morquio A disease is a genetic disorder resulting in N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, and patients are currently treated with enzyme replacement therapy via weekly intravenous enzyme infusions.
Michael Flanagan +8 more
doaj +1 more source
Purificación de anticuerpos policlonales en gallina (IgG) y conejo (IgG) producidos contra secuencias peptídicas de la enzima n-acetilgalactosamina-6-sulfato sulfatasa (galns) y su aplicación en la implementación de una técnica elisa tipo "sandwich" [PDF]
, 2009 N-acetilgalactosamina-6-sulfato sulfatasa (GALNS; EC3.1.6.4) es una enzima lisosomal perteneciente a la familia de las sulfatasas humanas. Su deficiencia causa un trastorno conocido como Mucopolisacaridosis tipo IVA (MPS IVA; síndrome de Morquio A ...
Lizaraso Trespalacios, Lina María
core +1 more source
Bulletin of the National Research Centre, 2022 Background Mucopolysaccharidoses IVA is an autosomal recessive lysosomal storage disease resulting in skeletal and cartilage dysplasia. Hematopoietic stem cell transplantation is a good therapeutic option for MPS IV.
Faravareh Khordadpoor Deilamani +1 more
doaj +1 more source