中国神经再生研究(英文版) ›› 2022, Vol. 17 ›› Issue (11): 2445-2447.doi: 10.4103/1673-5374.338996

• 观点:神经损伤修复保护与再生 • 上一篇    下一篇

ATXN2变异是否改变了我们对神经发病机制、表型和诊断的理解?

  

  • 出版日期:2022-11-15 发布日期:2022-04-22

Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?

Jose Miguel Laffita-Mesa*, Martin Paucar, Per Svenningsson   

  1. Department of Clinical Neuroscience (CNS), Karolinska Universitetssjukhuset, Stockholm, Sweden
  • Online:2022-11-15 Published:2022-04-22
  • Contact: Jose Miguel Laffita-Mesa, PhD, jose.laffita@ki.se.

摘要: https://orcid.org/0000-0003-3404-2391 (Jose Miguel Laffita-Mesa)
https://orcid.org/0000-0003-3735-1480 (Martin Paucar)
https://orcid.org/0000-0001-6727-3802 (Per Svenningsson)

Abstract: ATXN2 gene encodes a cytosolic protein (ataxin-2) with pleiotropic functions (see below). This gene contains a number of exonic Cytosine-Adenine-Guanine (CAG)-repeats which encodes a polyglutamine tract (polyQ) in the N-terminal intrinsically disordered region (IDR) of the protein. ATXN2 CAG repeats are interrupted by CAA codons which is relevant only for DNA and RNA but not for protein since CAA also encodes glutamine (Q).