Citation

Tey, Han Jieh and Ng, Chong Han (2019) Computational analysis of functional SNPs in Alzheimer’s disease-associated endocytosis genes. PeerJ, 7. e7667. ISSN 2167-8359

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Abstract

From genome wide association studies on Alzheimer’s disease (AD), it has been shown that many single nucleotide polymorphisms (SNPs) of genes of different pathways affect the disease risk. One of the pathways is endocytosis, and variants in these genes may affect their functions in amyloid precursor protein (APP) trafficking, amyloid-beta (Aβ) production as well as its clearance in the brain. This study uses computational methods to predict the effect of novel SNPs, including untranslated region (UTR) variants, splice site variants, synonymous SNPs (sSNPs) and non-synonymous SNPs (nsSNPs) in three endocytosis genes associated with AD, namely PICALM, SYNJ1 and SH3KBP1.

Item Type:	Article
Uncontrolled Keywords:	Computational biology, SNP prediction, Alzheimer’s disease, Computational analysis, Endocytosis genes, PICALM, SH3KBP1, SYNJ1
Subjects:	Q Science > QH Natural history
Divisions:	Faculty of Information Science and Technology (FIST)
Depositing User:	Ms Rosnani Abd Wahab
Date Deposited:	01 Sep 2021 02:54
Last Modified:	01 Sep 2021 02:54
URII:	http://shdl.mmu.edu.my/id/eprint/8738

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