White matter matters inβ-glucocerebrosidase-related pathologiesOA
β-glucocerebrosidase in health and disease:Mutations in theβ-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).GBA is a membrane-bound lysosomalenzyme responsible for glucosylceramide and glucosylsphingosine hydrolysis.When this enzyme is mutated and dysfunctional,its substrates progressively accumulate within cells.
Loris Russo;Matilde Cescon
Department of Molecular Medicine,University of Padova,Padova,ItalyDepartment of Molecular Medicine,University of Padova,Padova,Italy
医药卫生
white matterglucosylceramideGaucher s diseaseglucocerebrosidaseglucosylsphingosinelysosomal storage disorderglucocerebrosidase gene
《Neural Regeneration Research》 2026 (6)
P.2333-2334,2
funded by the AFM-Telethon Foundation(#28703)and by the Italian Ministry of Education,University and Research(Grant P2022Y2A3L fundedin the framework of NRRP,Mission 4.2,Investment1.1“progetti di ricerca di Rilevante InteresseNazionale‐PRIN”,funded by the European Union‐Next Generation EU,CUP C53D23007520001GrantP20227YB93,CUP C53D23003030001)(to MC).Moreover,as part of the activities of the NationalCenter for Gene Therapy and Drugs based on RNATechnology,funded in the framework of the NationalRecovery and Resilience Plan(NRRP),Mission 4“Education and Research”,Component 2“FromResearch to Business”,Investment 1.4“Strengtheningresearch structures for supporting the creation ofNational Centres,national R&D leaders on some KeyEnabling Technologies”,this work was funded bythe European Union‐Next Generation EU,ProjectCN00000041,CUP B93D21010860004,Spoke n.5“Inflammatory and infectious diseases”(to MC).
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