197
Views
0
CrossRef citations to date
0
Altmetric
Brief Reports: Genomics

Analysis of STMN2 CA repeats in italian ALS patients shows no association

, , , , , , , , , & show all
Pages 152-154 | Received 23 Apr 2022, Accepted 04 Jul 2022, Published online: 23 Jul 2022

References

  • Alsultan AA, Waller R, Heath PR, Kirby J. The genetics of amyotrophic lateral sclerosis: current insights. Degener Neurol Neuromuscul Dis. 2016;6:49–64.
  • Nowicka N, Juranek J, Juranek JK, Wojtkiewicz J. Risk factors and emerging therapies in amyotrophic lateral sclerosis. IJMS. 2019;20:2616.
  • Taylor JP, Brown RH, Jr, Cleveland DW. Decoding ALS: from genes to mechanism. Nature 2016;539:197–206.
  • Zhao M, Kim JR, van Bruggen R, Park JR. Binding proteins in amyotrophic lateral sclerosis. Mol Cells. 2018;41:818–29.
  • Kim G, Gautier O, Tassoni-Tsuchida E, Ma XR, Gitler AD. ALS genetics: gains, losses, and implications for future therapies. Neuron 2020;108:822–42.
  • Theunissen F, Anderton RS, Mastaglia FL, Flynn LL, Winter SJ, James I, et al. Novel STMN2 variant linked to amyotrophic lateral sclerosis risk and clinical phenotype. Front Aging Neurosci. 2021;13:658226.
  • Klim JR, Williams LA, Limone F, Guerra San Juan I, Davis-Dusenbery BN, Mordes DA, et al. ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat Neurosci. 2019;22:167–79.
  • Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, et al. Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nat Neurosci. 2019;22:180–90.
  • Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, NYGC ALS Consortium, et al. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. J Clin Invest. 2020;130:6080–92.
  • Ling JP, Pletnikova O, Troncoso JC, Wong PC. TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science. 2015;349:650–5.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.