Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SSW, Kiskinis E, Winborn B, Freibaum BD, Kanagaraj A et al (2014) Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron 81:536–543. https://doi.org/10.1016/j.neuron.2013.12.018
Article CAS PubMed PubMed Central Google Scholar
Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y et al (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602–611. https://doi.org/10.1016/j.bbrc.2006.10.093
Article CAS PubMed Google Scholar
Ash PEA, Bieniek KF, Gendron TF, Caulfield T, Lin W-L, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R et al (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77:639–646. https://doi.org/10.1016/j.neuron.2013.02.004
Article CAS PubMed PubMed Central Google Scholar
Barmada SJ, Skibinski G, Korb E, Rao EJ, Wu JY, Finkbeiner S (2010) Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci Off J Soc Neurosci 30:639–649. https://doi.org/10.1523/JNEUROSCI.4988-09.2010
Brettschneider J, Arai K, Del Tredici K, Toledo JB, Robinson JL, Lee EB, Kuwabara S, Shibuya K, Irwin DJ, Fang L et al (2014) TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord. Acta Neuropathol 128:423–437. https://doi.org/10.1007/s00401-014-1299-6
Article CAS PubMed PubMed Central Google Scholar
Brown A-L, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA et al (2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature 603:131–137. https://doi.org/10.1038/s41586-022-04436-3
Article CAS PubMed PubMed Central Google Scholar
Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N, Shaw PJ (2013) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol Neurodegener 8:12–12. https://doi.org/10.1186/1750-1326-8-12
Article CAS PubMed PubMed Central Google Scholar
Carmen-Orozco RP, Tsao W, Ye Y, Sinha IR, Chang K, Trinh V, Chung W, Bowden K, Troncoso JC, Blackshaw Set al (2023) Elevated nuclear TDP-43 induces constitutive exon skipping. bioRxiv: https://doi.org/10.1101/2023.05.11.540291
Cheng W, Wang S, Zhang Z, Morgens DW, Hayes LR, Lee S, Portz B, Xie Y, Nguyen BV, Haney MS et al (2019) CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated Non-AUG translation. Neuron 104:885-898.e888. https://doi.org/10.1016/j.neuron.2019.09.003
Article CAS PubMed PubMed Central Google Scholar
Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang Y-J, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME et al (2015) Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science (New York, NY) 348:1151–1154. https://doi.org/10.1126/science.aaa9344
Chou C-C, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM et al (2018) TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD. Nat Neurosci 21:228–239. https://doi.org/10.1038/s41593-017-0047-3
Article CAS PubMed PubMed Central Google Scholar
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J et al (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain J Neurol 137:2040–2051. https://doi.org/10.1093/brain/awu120
Coyne AN, Baskerville V, Zaepfel BL, Dickson DW, Rigo F, Frank Bennett C, Lusk P, Rothstein JD (2021) Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS. Sci Trans Med. https://doi.org/10.1126/scitranslmed.abe1923
Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC, Bowen K, Trost H, Aigner S, Rigo F et al (2020) G(4)C(2) Repeat RNA initiates a POM121-mediated reduction in specific nucleoporins in C9orf72 ALS/FTD. Neuron 107(1124–1140):e1111. https://doi.org/10.1016/j.neuron.2020.06.027
De Giorgio F, Maduro C, Fisher EM, Acevedo-Arozena A (2019) Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis. Dis Mod Mech 12(1):dmm037424. https://doi.org/10.1242/dmm.037424
DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R et al (2017) In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol 134:255–269. https://doi.org/10.1007/s00401-017-1725-7
Article CAS PubMed PubMed Central Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256. https://doi.org/10.1016/j.neuron.2011.09.011
Article CAS PubMed PubMed Central Google Scholar
Donnelly CJ, Zhang P-W, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM et al (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415–428. https://doi.org/10.1016/j.neuron.2013.10.015
Article CAS PubMed PubMed Central Google Scholar
Fallini C, Bassell GJ, Rossoll W (2012) The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth. Hum Mol Genet 21:3703–3718. https://doi.org/10.1093/hmg/dds205
Article CAS PubMed PubMed Central Google Scholar
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee K-H, Badders N, Valentine M, Miller BL, Wong PC et al (2015) GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525:129–133. https://doi.org/10.1038/nature14974
Article CAS PubMed PubMed Central Google Scholar
Frick P, Sellier C, Mackenzie IRA, Cheng C-Y, Tahraoui-Bories J, Martinat C, Pasterkamp RJ, Prudlo J, Edbauer D, Oulad-Abdelghani M et al (2018) Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers. Acta Neuropathol Commun 6:72–70. https://doi.org/10.1186/s40478-018-0579-0
Article CAS PubMed PubMed Central Google Scholar
Gal J, Strom A-L, Kwinter DM, Kilty R, Zhang J, Shi P, Fu W, Wooten MW, Zhu H (2009) Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism. J Neurochem 111:1062–1073. https://doi.org/10.1111/j.1471-4159.2009.06388.x
Article CAS PubMed PubMed Central Google Scholar
Gendron TF, Bieniek KF, Zhang Y-J, Jansen-West K, Ash PEA, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J et al (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126:829–844. https://doi.org/10.1007/s00401-013-1192-8
Article CAS PubMed PubMed Central Google Scholar
Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang Y-J, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA et al (2017) Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Trans Med. https://doi.org/10.1126/scitranslmed.aai7866
Gu J, Wu F, Xu W, Shi J, Hu W, Jin N, Qian W, Wang X, Iqbal K, Gong C-X et al (2017) TDP-43 suppresses tau expression via promoting its mRNA instability. Nucl Acids Res 45:6177–6193. https://doi.org/10.1093/nar/gkx175
Article CAS PubMed PubMed Central Google Scholar
Hao Z, Liu L, Tao Z, Wang R, Ren H, Sun H, Lin Z, Zhang Z, Chenchen M, Zhou J et al (2019) Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR. Nat Commun. https://doi.org/10.1038/s41467-019-10956-w
留言 (0)