References
- Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Amyotrophic lateral sclerosis mimic syndromes: a population based study. Arch Neurol. 2000; 57:109–13.
- Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80:155–65.
- Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neuron protein. EMBO J. 1996;15: 3555–65.
- Morris GE. The Cajal body. Biochim Biophys Acta. 2008; 1783:2108–15. Review.
- Kariya S, Re DB, Jacquier A, Nelson K, Przedborski S, Monani UR. Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies. Hum Mol Genet. 2012;21: 3421–34.
- Yamazaki T, Chen S, Yu Y, Yan B, Haertlein TC, Carrasco MA, et al. FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. Cell Rep. 2012; 2:799–806.
- Shan X, Chiang PM, Price DL, Wong PC. Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. Proc Natl Acad Sci U S A. 2010;107:16325–30.
- Tsuiji H, Iguchi Y, Furuya A, Kataoka A, Hatsuta H, Atsuta N, et al. Spliceosome integrity is defective in the motor neuron diseases ALS and SMA. EMBO Mol Med. 2013;5:221–34.
- Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
- Ito D, Seki M, Tsunoda Y, Uchiyama H, Suzuki N. Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS. Ann Neurol. 2011; 69:152–62.
- Sun Z, Diaz Z, Fang X, Hart MP, Chesi A, Shorter J, et al. Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol. 2011;9:e1000614.
- Gerbino V, Carrì MT, Cozzolino M, Achsel T. Mislocalized FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol Dis. 2013;55:120–8.
- Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, et al. ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Hum Mol Genet. 2013;22:2676–88.
- Cheah BC, Vucic S, Krishnan AV, Kiernan MC. Riluzole, neuroprotection and amyotrophic lateral sclerosis. Curr Med Chem. 2010;17:1942–1959. Review.
- Anhuf D, Eggermann T, Rudnik-Schöneborn S, Zerres K. Determination of SMN1 and SMN2 Copy Number Using TagManTM Technology. Hum Mutat. 2003;22:74–8.
- Ishihara T, Ariizumi Y, Shiga A, Kato T, Tan CF, Sato T, et al. Decreased number of gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis. Hum Mol Genet. 2013;22:4136–47.
- Oketa Y, Higashida K, Fukasawa H, Tsukie T, Ono S. Abundant FUS-immunoreactive pathology in the skin of sporadic amyotrophic lateral sclerosis. Acta Neurol Scand. 2013;128:257–64.
- Bhattacharya S, Chaum E, Johnson DA, Johnson LR. Age related susceptibility to apoptosis in human retinal pigment epithelial cells is triggered by disruption of p53-Mdm2 association. Invest Ophthalmol Vis Sci. 2012;53: 8350–66.
- Aston KI, Hunt SC, Susser E, Kimura M, Factor-Litvak P, Carrell D, et al. Divergence of sperm and leukocyte age-dependent telomere dynamics: implications for male-driven evolution of telomere length in humans. Mol Hum Reprod. 2012;18:517–22.
- Takahashi Y, Moriwaki S, Sugiyama Y, Endo Y, Yamazaki K, Mori T, et al. Decreased gene expression responsible for post-ultraviolet DNA repair synthesis in aging: a possible mechanism of age related reduction in DNA repair capacity. J Invest Dermatol. 2005;124:435–42.