Histoire naturelle de la gangliosidose GM2 débutant à l’âge adulte
Sign Up to like & getrecommendations! Published in 2018 at "Revue Neurologique"
DOI: 10.1016/j.neurol.2018.01.271
Abstract: Introduction La gangliosidose GM2 est une maladie lysosomale principalement pediatrique avec deficit en hexosaminidase A isole (Tay-Sachs, gene HEXA ) ou A + B (Sandhoff, HEXB). Une forme a debut adulte est decrite. Objectifs Clarifier l’histoire naturelle des… read more here.
Keywords: adulte; gangliosidose gm2; debut; histoire naturelle ... See more keywords
Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs
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DOI: 10.1016/j.neuroscience.2019.06.026
Abstract: Tay-Sachs disease (TSD) is a GM2 gangliosidosis lysosomal storage disease caused by a loss of lysosomal hexosaminidase-A (HEXA) activity and characterized by progressive neurodegeneration due to the massive accumulation of GM2 ganglioside in the brain.… read more here.
Keywords: neurons derived; tay sachs; ipscs; tsd ipscs ... See more keywords
Molecular Mechanism of the Flexible Glycan Receptor Recognition by Mumps Virus
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Virology"
DOI: 10.1128/jvi.00344-19
Abstract: Mumps virus (MuV) infection is characterized by parotid gland swelling and can cause pancreatitis, orchitis, meningitis, and encephalitis. MuV-related hearing loss is also a serious complication because it is usually irreversible. MuV outbreaks have been… read more here.
Keywords: gm2; tropism; muv; receptor ... See more keywords