دورية أكاديمية
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases
| العنوان: | Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases |
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| المؤلفون: | Phaneuf, Daniel, Wakamatsu, Nobuaki, Huang, Jing-Qi, Borowski, Anita, Peterson, Alan C., Fortunato, Sheila R., Ritter, Gerd, Igdoura, Suleiman A., Morales, Carlos R., Benoit, Guylaine, Akerman, Beverly R., Leclerc, Daniel, Hanai, Nobuo, Marth, Jamey D., Trasler, Jacquetta M., Gravel, Roy A. |
| بيانات النشر: | Oxford University Press |
| سنة النشر: | 1996 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Articles |
| الوصف: | We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (α subunit) or Hexb (β subunit) genes, respectively, encoding lysosomal β-hexosaminidase A (structure, α) and B (structure, ββ). Both mutant mice accumulate G M2 ganglioside in brain, much more so in Hexb −/− mice, and the latter also accumulate glycolipid G A2 . Hexa −/− mice suffer no obvious behavioral or neurological deficit, while Hexb −/− mice develop a fatal neurodegenerative disease, with spasticity, muscle weakness, rigidity, tremor and ataxia. The Hexb −/− but not the Hexa −/− mice have massive depletion of spinal cord axons as an apparent consequence of neuronal storage of G M2 . We propose that Hexa −/− mice escape disease through partial catabolism of accumulated G M2 via G A2 (asialo-G M2 ) through the combined action of sialidase and β-hexosaminidase B. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| العلاقة: | http://hmg.oxfordjournals.org/cgi/content/short/5/1/1Test; http://dx.doi.org/10.1093/hmg/5.1.1Test |
| DOI: | 10.1093/hmg/5.1.1 |
| الإتاحة: | https://doi.org/10.1093/hmg/5.1.1Test http://hmg.oxfordjournals.org/cgi/content/short/5/1/1Test |
| حقوق: | Copyright (C) 1996, Oxford University Press |
| رقم الانضمام: | edsbas.80AB3F7E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/hmg/5.1.1 |
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