Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/171780
Title: Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family
Authors: Zaka, Ayesha
Yousaf, Maha
Shahzad, Shaheen
Rao, Hadi Zahid
Foo, Jia Nee
Siddiqi, Saima
Keywords: Science::Medicine
Issue Date: 2023
Source: Zaka, A., Yousaf, M., Shahzad, S., Rao, H. Z., Foo, J. N. & Siddiqi, S. (2023). Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family. Journal of Biomolecular Structure & Dynamics. https://dx.doi.org/10.1080/07391102.2023.2224889
Journal: Journal of Biomolecular Structure & Dynamics
Abstract: 3M syndrome is a rare genetic familial disorder characterized by short stature, growth retardation, facial dysmorphism, skeletal abnormalities, fleshy protruding heels, and normal intelligence, caused by mutations in the CUL7, OBSL1 and CCDC8 genes. In the present study, a novel homozygous missense variant of CUL7 (NP_001161842.1, c.4493T > C, p.L1498P) has been identified in a consanguineous Pakistani family by whole exome sequencing. In silico structural evaluation, molecular docking and simulation studies of mutant CUL7 provides substantial evidence about its crucial role in the progression of discussed ailment. The newly discovered variant significantly altered the protein's three dimensional structure, leading to abnormal interaction with binding proteins. This computational and experimental investigation provides useful information to drug developers for the synthesis of novel therapeutics against the discussed ailment.Communicated by Ramaswamy H. Sarma.
URI: https://hdl.handle.net/10356/171780
ISSN: 0739-1102
DOI: 10.1080/07391102.2023.2224889
Schools: Lee Kong Chian School of Medicine (LKCMedicine) 
Rights: © 2023 Informa UK Limited, trading as Taylor & Francis Group. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Journal Articles

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