|
1) Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993; 362: 59-62
|
|
|
|
2) Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001; 29: 160-5
|
|
|
|
|
3) Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004; 74: 1128-35
|
|
|
|
|
|
4) Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003; 33: 455-6
|
|
|
|
|
|
5) Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004; 75: 822-31
|
|
|
|
|
|
6) Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and ʼsporadicʼ amyotrophic lateral sclerosis. Nat Genet. 2006; 38: 411-3
|
|
|
|
|
|
7) Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008; 319: 1668-72
|
|
|
|
|
|
8) Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009; 323: 1205-8
|
|
|
|
|
|
9) Vance C, Rogelj B, Hortobágyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009; 323: 1208-11
|
|
|
|
|
|
10) Chow CY, Landers JE, Bergren SK, et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet. 2009; 84: 85-8
|
|
|
|
|
|
11) Orlacchio A, Babalini C, Borreca A, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain. 2010; 133: 591-8
|
|
|
|
|
|
12) Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010; 465: 223-6
|
|
|
|
|
|
13) Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010; 68: 857-64
|
|
|
|
|
|
14) Rezaie T, Child A, Hichings R et al. Adult-onset primary open-angle glaucoma caused by muta-tions in optineurin. Science. 2002; 295: 1077-9
|
|
|
|
|
|
15) Iida A, Hosono N, Sano M, et al. Optineurin mutations in Japanese amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2011 Jan 8
|
|
|
|
|
|
16) Sugihara K, Maruyama H, Kamada M, et al. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian popula-tion. Neurobiol Aging. 2011; 32: 1923
|
|
|
|
|
|
17) Belzil VV, Daoud H, Desjarlais A. et al. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging. 2011; 32: 555. e13-4
|
|
|
|
|
|
18) Millecamps S, Boillée S, Chabrol E, et al. Screening of OPTN in French familial amyo-trophic lateral sclerosis. Neurobiol Aging. 2011; 32: 557. e11-3
|
|
|
|
|
|
19) Del Bo R, Tiloca C, Pensato V, et al. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2011 May 25
|
|
|
|
|
|
20) van Blitterswijk M, van Vught PW, van Es MA, et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging. 2011 Jul 27
|
|
|
|
|
|
21) Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314: 130-3
|
|
|
|
|
|
22) Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2006; 351: 602-11
|
|
|
|
|
|
23) Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010; 9: 995-1007
|
|
|
|
|
|
24) Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010; 68: 857-64
|
|
|
|
|
|
25) Rollinson S, Bennion J, Toulson G, et al. Analysis of optineurin in frontotemporal lobar degeneration. Neurobiol Aging. 2010 Nov 11
|
|
|
|
|
|
26) Chalasani ML, Balasubramanian D, Swarup G. Focus on molecules: optineurin. Exp Eye Res. 2008; 87: 1-2
|
|
|
|
|
|
27) Chalasani ML, Swarup G, Balasubramanian D. Optineurin and its mutants: molecules associated with some forms of glaucoma. Ophthalmic Res. 2009; 42: 176-84
|
|
|
|
|
|
28) Ying H, Shen X, Park B, et al. Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. PLoS One. 2010; 5: e9168
|
|
|
|
|
|
29) Sahlender DA, Roberts RC, Arden SD et al. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exo-cytosis. J Cell Biol. 2005; 169: 285-95
|
|
|
|
|
|
30) del Toro D, Alberch J, Lázaro-Diéguez F, et al. Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus. Mol Biol Cell. 2009; 20: 1478-92
|
|
|
|
|
|
31) Mourelatos Z, Adler H, Hirano A, et al. Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis revealed by organelle-specific antibodies. Proc Natl Acad Sci U S A. 1990; 87: 4393-5
|
|
|
|
|
|
32) Fujita Y, Okamoto K, Sakurai A, et al. Fragmentation of the Golgi apparatus of the anterior horn cells in patients with familial amyotrophic lateral sclerosis with SOD1 mutations and posterior column involvement. J Neurol Sci. 2000; 174: 137-40
|
|
|
|
|
|
33) Zhu G, Wu CJ, Zhao Y, et al. Optineurin negatively regulates TNFalpha-induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP. Curr Biol. 2007; 17: 1438-43
|
|
|
|
|
|
34) Jiang YM, Yamamoto M, Kobayashi Y, et al. Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis. Ann Neurol. 2005; 57: 236-51
|
|
|
|
|
|
35) Wild P, Farhan H, McEwan DG, et al. Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science. 2011; 333: 228-33
|
|
|
|
|
|
36) Ito H, Nakamura M, Komure O, et al. Clinico-pathologic study on an ALS family with a hetero-zygous E478G optineurin mutation. Acta Neuropathol. 2011; 122: 223-9
|
|
|
|
|
|
37) Gonatas NK, Stieber A, Mourelatos Z, et al. Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis. Am J Pathol. 1992; 140: 731-7
|
|
|
|
|
|
38) Hortobágyi T, Troakes C, Nishimura AL. et al. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol. 2011; 121: 519-27
|
|
|
|
|
|
39) Osawa T, Mizuno Y, Fujita Y, et al. Optineurin in neurodegenerative diseases. Neuropathology. 2011 Feb 1
|
|
|
|
|
|
40) Ito H, Fujita K, Nakamura M, et al. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclu-sion body disease. Acta Neuropathol. 2011; 121: 555-7
|
|
|
|
|