Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system [0.03%]
帕金森病和内体溶酶体系统功能障碍的常见遗传风险
Noopur Bhore,Erin C Bogacki,Benjamin O&#x;Callaghan et al.
Noopur Bhore et al.
Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the id...
Dario R Alessi,Peter J Cullen,Mark Cookson et al.
Dario R Alessi et al.
While causative mutations in complex disorders are rare, they can be used to extract a biological pathway whose pathogenicity can generalize to common forms of the disease. Here we begin by relying on the biological consequences of mutation...
Endo-lysosomal dysfunction in neurodegenerative diseases: opinion on current progress and future direction in the use of exosomes as biomarkers [0.03%]
内溶酶体功能障碍在神经退行性疾病中的作用：关于将外泌体用作生物标志物的当前进展和未来方向的观点
Mathieu Herman,Grace W Randall,Julia L Spiegel et al.
Mathieu Herman et al.
Over the past two decades, increased research has highlighted the connection between endosomal trafficking defects and neurodegeneration. The endo-lysosomal network is an important, complex cellular system specialized in the transport of pr...
Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia [0.03%]
SORL1缺乏对人类神经元和小胶质细胞内溶酶体网络的差异影响
Swati Mishra,Suman Jayadev,Jessica E Young
Swati Mishra
The endosomal gene SORL1 is a strong Alzheimer's disease (AD) risk gene that harbours loss-of-function variants causative for developing AD. The SORL1 protein SORL1/SORLA is an endosomal receptor that interacts with the multi-protein sortin...
Cell type-specific functions of Alzheimer's disease endocytic risk genes [0.03%]
阿尔茨海默病胞吞作用风险基因的细胞类型特异性功能
Johanna-Katharina Maninger,Karolina Nowak,Srilakshmi Goberdhan et al.
Johanna-Katharina Maninger et al.
Endocytosis is a key cellular pathway required for the internalization of cellular nutrients, lipids and receptor-bound cargoes. It is also critical for the recycling of cellular components, cellular trafficking and membrane dynamics. The e...
Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity [0.03%]
在基于细胞的测定中对SORL1变异体进行功能表征以研究变异体致病性
Elnaz Fazeli,Elham Fazeli,Petr Fojtík et al.
Elnaz Fazeli et al.
SORLA, the protein encoded by the SORL1 gene, has an important role in recycling cargo proteins to the cell surface. While SORLA loss-of-function variants occur almost exclusively in Alzheimer's disease cases, the majority of SORL1 variants...
Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease [0.03%]
尼曼-皮克氏病的内溶酶体功能障碍和神经元-胶质细胞相互作用
Mariagiovanna Malara,Matthias Prestel,Sabina Tahirovic
Mariagiovanna Malara
Niemann-Pick type C (NPC) disease is a rare progressive lysosomal lipid storage disorder that manifests with a heterogeneous spectrum of clinical syndromes, including visceral, neurological and psychiatric symptoms. This monogenetic autosom...
Peter J Cullen,Henne Holstege,Scott A Small et al.
Peter J Cullen et al.
Jordan Rowlands,Darren J Moore
Jordan Rowlands
The vacuolar protein sorting 35 ortholog (VPS35) gene encodes a core component of the retromer complex essential for the endosomal sorting and recycling of transmembrane cargo. Endo-lysosomal pathway deficits are suggested to play a role in...
Correction: 'Evaluation of Kato-Katz and multiplex quantitative polymerase chain reaction performance for clinical helminth infections in Thailand using a latent class analysis' (2023), by Rotejanaprasert et al [0.03%]
修正：《评估Kato-Katz和多路定量聚合酶链反应在泰国临床蠕虫感染中的性能使用潜类分析》（2023年），Rotejanaprasert等人著
Chawarat Rotejanaprasert,Pavadee Chuaicharoen,Joaquin M Prada et al.
Chawarat Rotejanaprasert et al.