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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T. Yang Y, et al. Among authors: yan j. Nat Genet. 2001 Oct;29(2):160-5. doi: 10.1038/ng1001-160. Nat Genet. 2001. PMID: 11586297
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP. Rezania K, et al. Among authors: yan j. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):162-6. doi: 10.1080/aml.4.3.162.166. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129803
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T. Fecto F, et al. Among authors: yan j. Arch Neurol. 2011 Nov;68(11):1440-6. doi: 10.1001/archneurol.2011.250. Arch Neurol. 2011. PMID: 22084127
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Kwiatkowski TJ Jr, et al. Among authors: yan j. Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066. Science. 2009. PMID: 19251627
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