Endosomal Recycling Defects and Neurodevelopmental Disorders.
Endosomal Recycling Defects and Neurodevelopmental Disorders.
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DOI：
10.3390/cells11010148
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发表时间：
2022-01-03
期刊：
影响因子：
6
通讯作者：
Saitoh S
中科院分区：
文献类型：
--
作者：
Saitoh S
膜蛋白质的质量和数量通过内体再循环过程精确且动态地维持。这种内体再循环由两种蛋白质复合物执行：retromer和最近鉴定的retriever。retromer或retriever功能的缺陷导致许多膜蛋白的失调，并导致几种人类疾病，包括神经退行性疾病，如阿尔茨海默病和帕金森病。最近，神经发育障碍所造成的致病性变异基因与寻回被确定。本文综述了这两种循环复合物，并讨论了它们的生物学和发育作用以及内体循环缺陷的后果，特别是在神经系统中。我们还讨论了retromer和retriever功能障碍与神经发育障碍的可能关系的未来前景。
The quality and quantity of membrane proteins are precisely and dynamically maintained through an endosomal recycling process. This endosomal recycling is executed by two protein complexes: retromer and recently identified retriever. Defects in the function of retromer or retriever cause dysregulation of many membrane proteins and result in several human disorders, including neurodegenerative disorders such as Alzheimer’s disease and Parkinson’s disease. Recently, neurodevelopmental disorders caused by pathogenic variants in genes associated with retriever were identified. This review focuses on the two recycling complexes and discuss their biological and developmental roles and the consequences of defects in endosomal recycling, especially in the nervous system. We also discuss future perspectives of a possible relationship of the dysfunction of retromer and retriever with neurodevelopmental disorders.
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影响因子：
5.7
作者：
Anggono V;Huganir RL
通讯作者：
Huganir RL
影响因子：
16
作者：
Hao YH;Fountain MD Jr;Fon Tacer K;Xia F;Bi W;Kang SH;Patel A;Rosenfeld JA;Le Caignec C;Isidor B;Krantz ID;Noon SE;Pfotenhauer JP;Morgan TM;Moran R;Pedersen RC;Saenz MS;Schaaf CP;Potts PR
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Potts PR
影响因子：
2.2
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Damseh N;Danson CM;Al-Ashhab M;Abu-Libdeh B;Gallon M;Sharma K;Yaacov B;Coulthard E;Caldwell MA;Edvardson S;Cullen PJ;Elpeleg O
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Elpeleg O
影响因子：
5.2
作者：
Kanber, Deniz;Giltay, Jacques;Buiting, Karin
通讯作者：
Buiting, Karin
影响因子：
3.5
作者：
Bischof, Jocelyn M.;Stewart, Colin L.;Wevrick, Rachel
通讯作者：
Wevrick, Rachel