Article
SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches.
Molecular biology reports - 1 Sept 2022
Siddiqua Hafsa, Akter Yasmin, Uddin Md Nasir, Kumkum Mahadia, Hossain Mohammad Afzal, Aziz Md Abdul, Ahmed Mst Sharika, Chowdhury Mahmood Ahmed, Islam Mohammad Safiqul, Marzan Lolo Wal
Abstract excerpt
BACKGROUND: The SHANK3 gene encodes a master synaptic scaffolding protein at the excitatory synapse's postsynaptic density, which is predominantly responsible for constructing a synapse, maintaining synaptic structure, and functions. Recently, evidence from rare mutations and copy number variation provided an important clue about SHANK3 which acts as a strong candidate gene in the pathogenesis of Autism Spectrum...
Topics
- Asian People
- Autism Spectrum Disorder
- DNA Copy Number Variations
- Genetic Predisposition to Disease
- Humans
- Nerve Tissue Proteins