Unraveling the link between KIF13A gene mutation and motor neuron disorder
Morteza Heidarzadeh, Deniz Ata, Ceyda Nur Altınışık, A. Nazlı Başak, Tamer Önder, Mohammadreza Yousefi, Atay Vural · FENS Forum 2024
Brown–Violette–Van-Laere syndrome (BVVLS) is a childhood-onset motor neuron disorder. Autosomal recessive mutations in riboflavin transporter genes can be identified in half of the patients, and the genetic cause is not known for the rest. Recently, we performed whole exome sequencing in a family with five siblings diagnosed with BVVLS and identified an autosomal recessive missense variant in the KIF13A gene that codes for a kinesin motor protein. In this study, we aimed to explore the role of KIF13A in motor neuron degeneration.We first transfected 293T cells with wild-type (WT) and mutant (M
ePoster · Neuroscience