Neurodegenerative diseases are chronic,age-related disorders characterized by a relentless,irreversible,and selective loss of neurons in motor,sensory,or cognitive systems(Gao et al.,2019).Despite their heterogeneity,...Neurodegenerative diseases are chronic,age-related disorders characterized by a relentless,irreversible,and selective loss of neurons in motor,sensory,or cognitive systems(Gao et al.,2019).Despite their heterogeneity,a common pathological feature across many of these diseases is the accumulation of aggregate-prone proteins.Particularly,the cytoplasmic aggregation in neurons of the Transactive response DNA-binding protein 43(TDP-43).展开更多
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 ...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.展开更多
基金funded by the“Instituto de Salud Carlos III”(PI 17-000134,PI 20-0155,PI23/00176)the“Diputaciode Lleida”(PP10601-PIRS2021)to MPO+2 种基金Also from the“Diputaciode Lleida”(PP10605-PIRS2021)the“Generalitat de Catalunya”:Agency for Management of University and Research Grants(2021SGR00990)to RPSupport was also received in the form of a FUNDELA Grant,“RedELA-Plataforma Investigacion”and the“Fundacio Miquel Valls”(Jack Van den Hoek donation)(to MPO)。
文摘Neurodegenerative diseases are chronic,age-related disorders characterized by a relentless,irreversible,and selective loss of neurons in motor,sensory,or cognitive systems(Gao et al.,2019).Despite their heterogeneity,a common pathological feature across many of these diseases is the accumulation of aggregate-prone proteins.Particularly,the cytoplasmic aggregation in neurons of the Transactive response DNA-binding protein 43(TDP-43).
基金funded by the AFM-Telethon Foundation (#28703)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+2 种基金Grant P20227YB93, CUP C53D23003030001) (to MC)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”funded by the European Union-Next Generation EU, Project CN00000041, CUP B93D21010860004, Spoke n. 5 “Inflammatory and infectious diseases” (to MC)
文摘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.
