Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability

Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders. This study aimed to determine the pathogenetic mechanism of the MBOAT7 missense variant via molecular modeling. Three patients from...

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Bibliographic Details
Main Authors: Jiwon Lee, Amen Shamim, Jongho Park, Ja-Hyun Jang, Ji Hye Kim, Jeong-Yi Kwon, Jong-Won Kim, Kyeong Kyu Kim, Jeehun Lee
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Neurology
Subjects:
intellectual disability
MBOAT7
autism spectrum disorder
globus pallidus
cerebellar dentate nucleus
molecular modeling
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.836954/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.836954/full

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