نتایج جستجو برای: sandhoff disease
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Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features children with GM2 gangliosidoses.
 Materials Methods: file records 14 patients diagnosed gangliosidoses in our were retrospectively reviewed. was confirmed by determining levels serum total hexosaminidase β-hexosaminidase activity genetic analysis. 
 Resu...
We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglioside in brain, much more so in Hexb -/- mice, and the latter also accumulate glycolipid GA2. Hexa -/-...
Citation: Parolai S, Boxberger T, Pilz M, Fleming K, Haas M, Pittore M, Petrovic B, Moldobekov B, Zubovich A and Lauterjung J (2017) Assessing Earthquake Early Warning Using Sparse Networks in Developing Countries: Case Study of the Kyrgyz Republic. Front. Earth Sci. 5:74. doi: 10.3389/feart.2017.00074 Assessing Earthquake Early Warning Using Sparse Networks in Developing Countries: Case Study ...
Abstract Sandhoff disease (SD) is an ultra-rare lysosomal storage disorder (LSD), which affects ~ 1/1000, 000 live birth. SD caused by genetic deficiency of beta (β) Hexosaminidase and resulting excess central nervous system (CNS) synthesis GM2 ganglioside (GM2) its impact on neuron death. The exact mechanisms underlying such GM2-driven death are unknown in SD. Glucosylceramide (GC) induced com...
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