PICALM and Alzheimer's Disease: An Update and Perspectives

被引：45

作者：

Ando, Kunie ^{[1
]}

Nagaraj, Siranjeevi ^{[1
]}

Kucukali, Fahri ^{[2
]}

De Fisenne, Marie-Ange ^{[1
]}

Kosa, Andreea-Claudia ^{[1
]}

Doeraene, Emilie ^{[1
]}

Gutierrez, Lidia Lopez ^{[1
]}

Brion, Jean-Pierre ^{[1
]}

Leroy, Karelle ^{[1
]}

机构：

[1] Univ Libre Bruxelles, Fac Med, ULB Neurosci Inst, Lab Histol Neuropathol & Neuroanat, 808 Route Lenn, B-1070 Brussels, Belgium

[2] Univ Antwerp, VIB Ctr Mol Neurol, Dept Biomed Sci, VIB Antwerp,Complex Genet Alzheimers Dis Grp, B-2000 Antwerp, Belgium

来源：

CELLS | 2022年 / 11卷 / 24期

关键词：

PICALM; Alzheimer's disease; GWAS; amyloid beta; neurofibrillary tangles; microglia; CLATHRIN ASSEMBLY PROTEIN; GENOME-WIDE ASSOCIATION; ACTIVATED NEUTRAL PROTEINASE; AMYLOID-BETA; NEUROFIBRILLARY TANGLES; A-BETA; MEDIATED ENDOCYTOSIS; POSTTRANSLATIONAL MODIFICATIONS; IDENTIFIES VARIANTS; REDUCES A-BETA-42;

D O I：

10.3390/cells11243994

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Genome-wide association studies (GWAS) have identified the PICALM (Phosphatidylinositol binding clathrin-assembly protein) gene as the most significant genetic susceptibility locus after APOE and BIN1. PICALM is a clathrin-adaptor protein that plays a critical role in clathrin-mediated endocytosis and autophagy. Since the effects of genetic variants of PICALM as AD-susceptibility loci have been confirmed by independent genetic studies in several distinct cohorts, there has been a number of in vitro and in vivo studies attempting to elucidate the underlying mechanism by which PICALM modulates AD risk. While differential modulation of APP processing and A beta transcytosis by PICALM has been reported, significant effects of PICALM modulation of tau pathology progression have also been evidenced in Alzheimer's disease models. In this review, we summarize the current knowledge about PICALM, its physiological functions, genetic variants, post-translational modifications and relevance to AD pathogenesis.

引用

页数：26

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