Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis ( <i>ST3GAL5</i> ) and calcium voltage-gated channels ( <i>CACNA1H</i> ) - insights through molecular dynamic simulations-Reference-Cited by-同舟云学术

Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis ( ST3GAL5 ) and calcium voltage-gated channels ( CACNA1H ) - insights through molecular dynamic simulations

Published:2024-02-14 Issue: Volume: Page:1-12
ISSN:0739-1102
Container-title:Journal of Biomolecular Structure and Dynamics
language:en
Short-container-title:Journal of Biomolecular Structure and Dynamics

Author:

Abid Rizwan¹,Nisar Haseeb²,Chaudhary Safee Ullah³,Hamid Maham³,Sahibzada Kashif Iqbal⁴,Firdous Safia¹⁵,Mudassar Muhammad⁶,Sadaf Saima¹

Affiliation:

1. School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan

2. Department of Life-Sciences, University of Management and Technology, Lahore, Pakistan

3. Biomedical Informatics & Engineering Research Laboratory, Department of Life-Sciences, Syed Babar Ali School of Science and Engineering, Lahore University of Management Sciences, Lahore, Pakistan

4. Department of Health Professional Technologies, The University of Lahore, Lahore, Pakistan

5. Faculty of Rehabilitation and Allied Health Sciences, Riphah International University, Lahore, Pakistan

6. COMSATS University, Islamabad, Pakistan

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/07391102.2024.2314751

Reference54 articles.

1. Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome

2. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

3. Knowledge Attitude and Practice Regarding Antenatal Care among Pregnant Women in Rural Area of Lahore

4. Discovery of mutations for Mendelian disorders

5. Chemical profiling, antioxidant, enzyme inhibitory and molecular modelling studies on the leaves and stem bark extracts of three African medicinal plants