Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts
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چکیده
منابع مشابه
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively. These diseases are associated with excessive accumulation of GM2 ganglioside (GM2) in the brains of patients with neurological symptoms. Here w...
متن کاملTherapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis
To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. We succeeded in producing the modified HexB ...
متن کاملThymic Alterations in GM2 Gangliosidoses Model Mice
BACKGROUND Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids. We have previously found that the progressive neurologic disease induced in Hexb(-/-) mice, an animal model for Sandhoff disease, is associated with the production of pathogenic anti-glycolipid autoantibodies. METHODOLOGY/PRINCIPA...
متن کاملPossible role of autoantibodies in the pathophysiology of GM2 gangliosidoses.
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage disorder known as Sandhoff disease (SD). Hexb(-/-) mice rapidly develop a progressive neurologic disease of ganglioside GM2 and GA2 storage. Our study revealed that the disease states in this model are associated with the appearance of antiganglioside autoantibodies. Bo...
متن کاملTwo polymorphisms for the human GM2 activator protein gene.
Source/Description: A 300 bp HincII/EcoRI fragment of the human G^ activation protein cDNA (1) was subcloned into Bluescript vector and used as a probe. Polymorphism: Mspl identifies a two allele polymorphism with bands at either 3.4 kb (Al) or 2.9 kb (A2) and invariant bands at 1.0 kb, 1.8 kb and 4.0 kb. Rsal identifies a two allele polymorphism with a band at either 4.1 kb (Bl) or 3.4 kb (B2)...
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ژورنال
عنوان ژورنال: Biochemistry and Biophysics Reports
سال: 2016
ISSN: 2405-5808
DOI: 10.1016/j.bbrep.2016.04.012