SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

References

• Donkervoort S, Siddique T. (Updated 07/28/2009). Amyotrophic Lateral Sclerosis Overview Lou Gehrig's Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2011. Available at www.genetests.org. Accessed [1/13/11].
   Google Scholar
• Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
   PubMed Web of Science ®Google Scholar
• Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, . Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65–82.
   PubMed Web of Science ®Google Scholar
• Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, . SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010;47: 554–60.
   PubMed Web of Science ®Google Scholar
• Nagai M, Aoki M, Miyoshi I, Kato M, Pasinelli P, Kasai N, . Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: associated mutations develop motor neuron disease. J Neurosci. 2001;21:9246–54.
   PubMed Web of Science ®Google Scholar
• Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, . Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol. 2007;62:609–17.
   PubMed Web of Science ®Google Scholar
• Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci. 2008;13:867–78.
   PubMed Web of Science ®Google Scholar
• Dormann D, Rodde R, Edbauer D, Bentmann E, Fischer I, Hruscha A, . ALS-associated fused-in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J. 2010;29:2841–57.
   PubMed Web of Science ®Google Scholar
• Law WJ, Cann KL, Hicks GG. TLS, EWS and TAF15: a model for transcriptional integration of gene expression. Brief Funct Genomic Proteomic. 2006;5:8–14.
   PubMedGoogle Scholar
• Strong MJ. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci. 2010;288: 1–12.
   PubMed Web of Science ®Google Scholar
• Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, van der Burg CR, Russ C, . Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
   PubMed Web of Science ®Google Scholar
• Rutherford NJ, Finch NA, Dejesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, . Pathogenicity of exonic indels in fused-in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging Published Online First: 11 November 2010. doi:10.1016/j.neurobiolaging.2010.09.029
   Google Scholar
• Lill CM, Abel O, Bertram L, Al-Chalabi A. “Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases.” Amyotroph Lateral Scler. 2011;4:238–49.
   Google Scholar
• Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, . Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210−21.
   PubMed Web of Science ®Google Scholar
• Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, . Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4:62−73.
   PubMed Web of Science ®Google Scholar
• Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, . Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry. 2010;81:572−7.
   PubMed Web of Science ®Google Scholar
• Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, . Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging. 2009;30:1272–5.
   PubMed Web of Science ®Google Scholar
• Huang EJ, Zhang J, Geser F, Trojanowski JQ, Strober JB, Dickson DW, . Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol. 2010;20:1069–76.
   PubMed Web of Science ®Google Scholar
• Vance C, Rogelj B, Hortobagyi T, de Vos KJ, Nishimura AL, Sreedharan J, . Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–11.
   PubMed Web of Science ®Google Scholar
• Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, . Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2010;67:455–61.
   PubMed Web of Science ®Google Scholar
• Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, . Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75:807–14.
   PubMed Web of Science ®Google Scholar
• van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, van den Berghe R, Gijselinck1 I, . Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology. 2010;74:366–71.
   PubMed Web of Science ®Google Scholar
• Corrado L, del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, . Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet. 2010;47:190−4.
   PubMed Web of Science ®Google Scholar
• Yang S, Warraich ST, Nicholson GA, Blair IP. Fused-in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein. Int J Biochem Cell Biol. 2010;42: 1408–11.1
   PubMedGoogle Scholar