Tay+Sachs+References

__** References (List of literature referenced and cited) **__ 1. Bisel, B., Pavone, F.S., Calamai, M., (2014). GM1 and GM2 gangliosides: recent developments. //Biomol Concepts//., 5(1), 87-93. Retrieved December 2, 2014, from Pubmed. 2. Boles, D.J. & Proia, R.L. (1995). The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation. //AM J Hum Genet.//, 56(3), 716-724. Retrieved November 5, 2014, from PubMed.

3. Giller, G., (2014). “Genetic heroes” may be key to treating debilitating diseases. //Scientific American Online//. Retrieved September 16, 2014, from: []

4. Guidotti, J.E., Mignon, A., Haase, G., Caillaud, C., McDonell, N., Kahn, A., & Poenaru, L., (1999). Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase a-deficient knock-out mice. //Hum Mol Genet.//, 8(5), 831-838. Retrieved November 5, 2014, from PubMed.

5. Jamali, S., Eskandari, N., Aryani, O., Salehpour, S., Zaman, T., Kamalidehghan, B., & Houshmand, M., (2014). Three novel mutation in Iranian patients with Tay-Sachs disease. //Iran Biomed J.//, 18(2):114-119. Retrieved October 25, 2014, from PubMed.

6. Kaback, M.M. & Desnick, R.J., (2011). Hexosaminidase A deficiency. //GeneReviews//. Retrieved October 25, 2014, from PubMed Bookshelf.

7. Landeis, E.C., Ellis, I.H., Fensom, A.H., Green, P.M., & Bobrow, M., (1991). Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population. //J Med Genet.//, 28(3), 177-180. Retrieved November 5, 2014, from NCBI PMC.

8. Mahuran, D.J. (1999). Biochemical consequences of mutations causing the GM2 gangliosidoses. //Biochim Biophys Acta.//, 1455(2-3), 105-138. Retrieved November 5, 2014, from PubMed.

9. Mark, B., Mahuran, D., Cherney, M., Zhao, D., Knapp, S., & James, M. (2003). Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease. //J Mol Biol.//, 327(5), 1093-1109. Retrieved October 25, 2014, from PubMed.

10. Patterson, M.C., (2013). Gangliosides. //Handb Clin Neurol.//, 113, 1707-8. Retrieved October 25, 2014, from PubMed.

11. Proia, R.L., & Soravia, E., (1987). Organization of the gene encoding the human beta-hexosaminidase alpha-chain. //J Biol Chem.//, 262(31), 15322. Retrieved October 25, 2014, from PubMed.

12. Sandhoff, K., Harzer, K., (2013). Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. //J Neurosci//., 33(25), 10195-101208. Retrieved December 2, 2014, from Pubmed.

13. Sargeant, T.J., Drage, D.J., Wand S., Apostolakis, A.A., Cox, T.M., Cachon-Gonzalez, M.B., (2012). Characterization of inducible models of Tay-Sachs and related disease. //PloSGenet,// 8(9). Retrieved September 16, 2014 from PubMed.

14. Spyropoulos, B., Moens, P.B., Davidson, J., & Lowden, J.A., (1981). Heterozygote advantage in Tay-Sachs carriers? //Am J Genet.//, 33(3), 375-380. Retrieved September 16, 2014 from PubMed.

15. Sutton, V.R., (2002). Tay-Sachs disease screening and counseling families at risk for metabolic disease. //Obstet Gynecol Clin North Am.//, 29(2), 287-296. Retrieved November 5, 2014, from PubMed.

16. Torres, P.A., Zeng, B.J., Porter, B.F., Alroy, J., Horak, F., Horak, J., & Kolodny, E.H., (2010). Tay-Sachs disease in Jacob sheep. //Mol Genet Metab.,// 101(4), 357-363. Retrieved November 5, 2014, from PubMed.