. 2022; 32(3): 459-467 | DOI: 10.4274/terh.galenos.2022.76093 | ||||
The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubule-related Proteins in Patient Fibroblasts Using a Proteomic ApproachAyşe Semra Hız1, Ahmet Yaramış2, Ece Sönmezler3, Yavuz Oktay31Dokuz Eylül University Faculty of Medicine, Department of Pediatric Neurology, İzmir, Turkey2Private Child Neurology Clinic, Diyarbakır, Turkey 3İzmir Biomedicine and Genome Center, İzmir, Turkey Objective: The proteome is all the proteins produced or modified by an organism or system. Proteomics, which is an important component of functional genomics, describes the detection and characterization of a complete set of proteins present in a cell, organ, or organism at a given time. The katanin-like 2 (KATNAL2) gene encodes a protein with a microtubule-severing function, based on studies in cell cultures and lower organisms. However, there are no functional studies investigating the function of this gene in humans, yet. In this study, we aimed to perform proteomic analysis to investigate the effects of the variant in the KATNAL2 gene on the binding of various proteins to microtubules in the fibroblasts of a patient with epilepsy, autistic symptoms and intellectual disability with a homozygous pathogenic variant in the KATNAL2 gene. Ayşe Semra Hız, Ahmet Yaramış, Ece Sönmezler, Yavuz Oktay. The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubule-related Proteins in Patient Fibroblasts Using a Proteomic Approach. . 2022; 32(3): 459-467 Sorumlu Yazar: Ayşe Semra Hız, Türkiye |
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