典型文献
Presenilin mutations and their impact on neuronal differentiation in Alzheimer 's disease
文献摘要：
The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer's disease, harboring ～300 causative mutations, and representing ～90％ of all mutations associated with a very aggressive disease form. Presenilin 1 is the catalytic core of the γ-secretase complex that conducts the intramembranous proteolytic excision of multiple transmembrane proteins like the amyloid precursor protein, Notch-1, N- and E-cadherin, LRP, Syndecan, Delta, Jagged, CD44, ErbB4, and Nectin1a. Presenilin 1 plays an essential role in neural progenitor maintenance, neurogenesis, neurite outgrowth, synaptic function, neuronal function, myelination, and plasticity. Therefore, an imbalance caused by mutations in presenilin 1/γ-secretase might cause aberrant signaling, synaptic dysfunction, memory impairment, and increased Aβ42/Aβ40 ratio, contributing to neurodegeneration during the initial stages of Alzheimer's disease pathogenesis. This review focuses on the neuronal differentiation dysregulation mediated by PSEN1 mutations in Alzheimer's disease. Furthermore, we emphasize the importance of Alzheimer's disease-induced pluripotent stem cells models in analyzing PSEN1 mutations implication over the early stages of the Alzheimer's disease pathogenesis throughout neuronal differentiation impairment.
文献关键词：
中图分类号：
作者姓名：
Mercedes A.Hernández-Sapiéns
作者机构：
Unidad de Evaluación Preclínica,Unidad de Biotecnología Médica y Farmacéutica,Centro de Investigación y Asistencia en Tecnología y Dise?o del Estado de Jalisco,Guadalajara,México;Instituto de Neurociencias,IdISSC,Hospital Clínico San Carlos,Madrid,Espa?a;Biochemistry and Molecular Genetics Department,University of Alabama,Birmingham,Alabama;Unidad de Biotecnología Industrial,Centro de Investigación y Asistencia en Tecnología y Dise?o del Estado de Jalisco,Guadalajara,México;Centro Universitario de los Altos,Universidad de Guadalajara,Guadalajara,México
文献出处：
引用格式：
[1]Mercedes A.Hernández-Sapiéns-.Presenilin mutations and their impact on neuronal differentiation in Alzheimer 's disease)[J].中国神经再生研究（英文版）,2022(01):31-37
A类：
Presenilin,PSEN2,Nectin1a,myelination
B类：
mutations,their,impact,neuronal,differentiation,Alzheimer,disease,presenilin,PSEN1,are,mainly,responsible,causing,early,onset,familial,harboring,causative,representing,all,associated,very,aggressive,form,catalytic,core,secretase,complex,that,conducts,intramembranous,proteolytic,excision,multiple,transmembrane,proteins,like,amyloid,precursor,Notch,cadherin,LRP,Syndecan,Delta,Jagged,CD44,ErbB4,plays,essential,role,neural,progenitor,maintenance,neurogenesis,neurite,outgrowth,synaptic,plasticity,Therefore,imbalance,caused,by,might,aberrant,signaling,dysfunction,memory,impairment,increased,contributing,neurodegeneration,during,initial,stages,pathogenesis,This,review,focuses,dysregulation,mediated,Furthermore,we,emphasize,importance,induced,pluripotent,stem,cells,models,analyzing,implication,over,throughout
AB值：
0.603109
相似文献
机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
