Article
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
Journal of human genetics - 1 Sept 2013
Yasui Naoko, Takaoka Yutaka, Nishio Hisahide, Nurputra Dian K, Sekiguchi Kenji, Hamaguchi Hirotoshi, Kowa Hisatomo, Maeda Eiichi, Sugano Aki, Miura Kenji, Sakaeda Toshiyuki, Kanda Fumio, Toda Tatsushi
Abstract excerpt
Sandhoff disease is a GM2 gangliosidosis caused by mutations in HEXB encoding the β-subunit of β-hexosaminidase A. β-Hexosaminidase A exists as a heterodimer consisting of α- and β-subunits, and requires a GM2 activator protein to hydrolyze GM2. To investigate the molecular pathology in an adult Sandhoff disease patient with an early disease onset, we performed mutation detection, western blot analysis and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.