Year: 2026
Type: article
Study design: Case Report
Abstract: Objectives: haploinsufficiency and Charcot-Marie-Tooth (CMT) phenotypes. Methods: We performed clinical evaluation, genetic analyses, electrophysiology, and functional studies in 1 patient's fibroblasts. Results: [NM_006793.3:c.121C > T; p.(Arg41*)]. In patient's fibroblasts, we observed ∼50% reduction in AFG3L2 protein levels, which is sufficient to hyperactivate the stress-sensitive IMM protease OMA1. Consequently, we detected increased OPA1 processing, mitochondrial shortening, and activation of the integrated stress response. Discussion: -related diseases and emphasizing its potential inclusion in CMT diagnostic panels.
Source: Neurology Genetics
Authors: Alessandra Rocco, Christian Laurini, Yuri Matteo Falzone, Silvia Calzavara, Ubaldo Del Carro, Stefano Carlo Previtali, Francesca Maltecca
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W7140114745