The GM2 gangliosidoses datanases: Allelic variation at the HEXA, HEXB, and GMWA gene loci
نویسندگان
چکیده
منابع مشابه
Allelic Variation of MYF5 Gene Detected in the Camelus bactrianus
The myogenic factors (MYF) 5 gene has been reported to contribute to muscle growth and development, therefore they are considered as candidate genes for growth and meat quality related traits. The MYF5 gene is expressed during proliferation of myoblasts and comprises 3 exons. To ascertain whether there is any variation in the camel MYF5 gene, we have used a polymerase chain reaction-single stra...
متن کاملCombined 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 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 کاملPCR-based markers for identification of some allelic variation at Glu-1 and Glu-3 loci in common wheat
Marker assisted selection (MAS) is a tool for breeding, screening, and genetic characterization of germplasm. Allelic variation of both high and low molecular weight glutenin subunits (HMW/LMW-GS) is associated with the rheological properties of wheat flour. In this study, we investigated glutenin pattern using SDS-PAGE and their PCR based on DNA markers in 60 advanced wheat lines and cultivars...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200011000-00003