Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 24, 2023 - Issue 1-2
Submit an article Journal homepage
201
Views
0
CrossRef citations to date
0
Altmetric
Brief Reports: Genomics

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

Paolo Niccolò Doronzio1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, ItalyCorrespondence[email protected]
,
Serena Lattante1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Giuseppe Marangi1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Francesco Martello1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Amelia Conte2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Giulia Bisogni2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Daniela Bernardo2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Agata Katia Patanella2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Emiliana Meleo2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Marcella Zollino1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
&
Mario Sabatelli3 Department of Neurology, Universitá Cattolica del Sacro Cuore, Rome, Italy
 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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.