中国神经再生研究(英文版) ›› 2026, Vol. 21 ›› Issue (6): 2333-2334.doi: 10.4103/NRR.NRR-D-25-00158

• 观点:退行性病与再生 • 上一篇    下一篇

β-葡萄糖脑苷脂酶相关病理中的白质问题

  

  • 出版日期:2026-06-15 发布日期:2026-04-16

White matter matters in beta-glucocerebrosidase-related pathologies

Loris Russo, Matilde Cescon*   

  1. Department of Molecular Medicine, University of Padova, Padova, Italy
  • Online:2026-06-15 Published:2026-04-16
  • Contact: Matilde Cescon, PhD, matilde.cescon@unipd.it.
  • Supported by:
    This work was funded by the AFM-Telethon Foundation (#28703) and by the Italian Ministry of Education, University and Research (Grant P2022Y2A3L funded in the framework of NRRP, Mission 4.2, Investment 1.1 “progetti di ricerca di Rilevante Interesse Nazionale ‐ PRIN”, funded by the European Union ‐ Next Generation EU, CUP C53D23007520001; Grant P20227YB93, CUP C53D23003030001) (to MC). Moreover, as part of the activities of the National Center for Gene Therapy and Drugs based on RNA Technology, funded in the framework of the National Recovery and Resilience Plan (NRRP), Mission 4 “Education and Research”, Component 2 “From Research to Business”, Investment 1.4 “Strengthening research structures for supporting the creation of National Centres, national R&D leaders on some Key Enabling Technologies”, this work was funded by the European Union ‐ Next Generation EU, Project CN00000041, CUP B93D21010860004, Spoke n. 5 “Inflammatory and infectious diseases” (to MC).

摘要: https://orcid.org/0000-0001-7138-1857 (Matilde Cescon)
 

Abstract: β-glucocerebrosidase in health and disease: Mutations in the β-glucocerebrosidase (GBA) gene do cause the rare lysosomal storage disorder Gaucher’s disease (GD) with an estimated global prevalence of 1:200,000 (Imbalzano et al., 2024).