Genetic alterations of C9orf72, SOD1, TARDBP, FUS, and UBQLN2 genes in patients with Amyotrophic Lateral Sclerosis

References

• Boillée, S., Velde, C. V., & Cleveland, D. W. (2006). ALS: A disease of motor neurons and their nonneuronal neighbors. Neuron, 52, 39–10. doi:10.1016/j.neuron.2006.09.018
   PubMed Web of Science ®Google Scholar
• Brooks, B. R. (1994). Escorial world federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Journal of the Neurological Sciences, 124, 96–107. doi:10.1016/0022-510X(94)90191-0
   PubMed Web of Science ®Google Scholar
• Cooper-Knock, J., Shaw, P. J., & Kirby, J. (2014). The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathologica, 127, 333–345. doi:10.1007/s00401-014-1251-9
   PubMed Web of Science ®Google Scholar
• Corrado, L., D’alfonso, S., Bergamaschi, L., Testa, L., Leone, M., Nasuelli, N., … Mazzini, L. (2006). SOD1 gene mutations in Italian patients with sporadic Amyotrophic Lateral Sclerosis (ALS). Neuromuscular Disorders, 16, 800–804. doi:10.1016/j.nmd.2006.07.004
   PubMed Web of Science ®Google Scholar
• dbSNP. (2010). “dbSNP Short Genetic Variations” NCBI. Retrived from https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ss.cgi?subsnp_id=32469335
   Google Scholar
• DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., … Kouri, N. (2011, October 20). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72, 245–256.
   PubMed Web of Science ®Google Scholar
• Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., … Siddique, T. (2011). Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature, 477, 211–215. doi:10.1038/nature10353
   Web of Science ®Google Scholar
• Esteban, J., Rosen, D. R., Bowling, A. C., Sapp, P., McKenna-Yasek, D., O’Regan, J. P., … Brown, R. H., Jr. (1994). Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Human Molecular Genetics, 3, 997–998.
   PubMed Web of Science ®Google Scholar
• Janssens, J., & Van Broeckhoven, C. (2013). Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD–ALS spectrum disorders. Human Molecular Genetics, 22, R77–R87. doi:10.1093/hmg/ddt349
   PubMed Web of Science ®Google Scholar
• Kwiatkowski, T. J., Jr., Bosco, D. A., Leclerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., … Valdmanis, P. (2009, February 27). Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 323, 1205–1208.
   PubMed Web of Science ®Google Scholar
• Kwon, M. J., Baek, W., Ki, C. S., Kim, H. Y., Koh, S. H., Kim, J. W., & Kim, S.H. (2012, May). Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiology of Aging, 33(1017), e1017–1023. doi:10.1016/j.neurobiolaging.2011.12.003
   PubMed Web of Science ®Google Scholar
• Lahut, S., Omur, Ö., Uyan, O., Agım, Z. S., Ozoguz, A., Parman, Y., … Veitia, R. A. (2012). ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PloS one, 7, e42956. doi:10.1371/journal.pone.0042956
   PubMed Web of Science ®Google Scholar
• Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., … Komure, O. (2010, May 13). Mutations of optineurin in amyotrophic lateral sclerosis. Nature, 465, 223–226.
   PubMed Web of Science ®Google Scholar
• Mentula, H.-K., Tuovinen, L., Penttilä, S., Suominen, T., Udd, B., & Palmio, J. (2012). TARDBP mutations are not a frequent cause of ALS in finnish patients. Acta Myologica, 31, 134.
   PubMedGoogle Scholar
• Millecamps, S., Salachas, F., Cazeneuve, C., Gordon, P., Bricka, B., Camuzat, A., … Meininger, V. (2010, Aug). SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations. Journal of Medical Genetics, 47, 554–560. doi:10.1136/jmg.2010.077180
   PubMed Web of Science ®Google Scholar
• Miller, S., Dykes, D., & Polesky, H. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215. doi:10.1093/nar/16.3.1215
   PubMed Web of Science ®Google Scholar
• Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., … Lee, V. M.-Y. (2006). Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science, 314, 130–133. doi:10.1126/science.1134108
   PubMed Web of Science ®Google Scholar
• Ozoguz, A., Uyan, O., Birdal, G., Iskender, C., Kartal, E., Lahut, S., … Başak, A. N. (2015, Apr). The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of Aging, 36, 1764 e1769–1764 e1718. doi:10.1016/j.neurobiolaging.2014.12.032
   Web of Science ®Google Scholar
• Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., … Kalimo, H. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257–268. doi:10.1016/j.neuron.2011.09.010
   PubMed Web of Science ®Google Scholar
• Robberecht, W., & Philips, T. (2013, Apr). The changing scene of amyotrophic lateral sclerosis. Nature Reviews. Neuroscience, 14, 248–264. doi:10.1038/nrn3430
   PubMed Web of Science ®Google Scholar
• Rowland, L. P., & Shneider, N. A. (2001). Amyotrophic lateral sclerosis. New England Journal of Medicine., 344, 1688–1700. doi:10.1056/NEJM200105313442207
   PubMed Web of Science ®Google Scholar
• Uyan, O., Omur, Ö., Agım, Z. S., Ozoguz, A., Li, H., Parman, Y., … Cookson, M. R. (2013). Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: Deletion of EPHA3 is a possible protective factor. PloS One, 8, e72381. doi:10.1371/journal.pone.0072381
   PubMed Web of Science ®Google Scholar
• Valdmanis, P. N., Belzil, V. V., Lee, J., Dion, P. A., St-Onge, J., Hince, P., … Rouleau, G. A. (2009). A mutation that creates a pseudoexon in SOD1 causes familial ALS. Annals of Human Genetics, 73, 652–657.
   PubMed Web of Science ®Google Scholar
• Van Blitterswijk, M., Van, E., Michael, A., Hennekam, E. A., Dooijes, D., Van Rheenen, W., … De Visser, M. (2012). Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human Molecular Genetics, 21(17), 3776–3784. doi:10.1093/hmg/dds199
   PubMed Web of Science ®Google Scholar
• Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., … Shaw, C. E. (2009). Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science, 323(5918), 1208–1211. doi:10.1126/science.1165942
   PubMed Web of Science ®Google Scholar
• Wroe, R., Wai-Ling Butler, A., Andersen, P. M., Powell, J. F., & Al-Chalabi, A. (2008). ALSOD: The amyotrophic lateral sclerosis online database. Amyotrophic Lateral Sclerosis, 9, 249–250. doi:10.1080/17482960802146106
   PubMed Web of Science ®Google Scholar
• Zou, Z. ‐. Y., Peng, Y., Feng, X. ‐. H., Wang, X. ‐. N., Sun, Q., Liu, M. ‐. S., … Cui, L. ‐. Y. (2012). Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies, 19(7), 977–983. doi:10.1111/j.1468-1331.2012.03662.x
   PubMed Web of Science ®Google Scholar