Article
Clinical and molecular characterization of a novel pathogenic AIFM1 E336K mutation connecting mitochondrial dysfunction and neurodegeneration.
Cell communication and signaling : CCS - 9 Apr 2026
Ferrer Miguel, Pedrón María, Soriano Olga, Martínez-Julvez Marta, Marín-Baquero Mikel, García-Villanueva Rut, Velázquez-Campoy Adrián, Marco-Brualla Joaquín, Ripollés-Yuba Cristina, Fernández-Silva Patricio, Medina Milagros, Miramar María Dolores, Bestué María, Moreno-Loshuertos Raquel, Ferreira Patricia
Abstract excerpt
Mutations in the AIFM1 gene, encoding the apoptosis-inducing factor (AIF), have been associated with a spectrum of neurometabolic disorders. However, the mechanistic basis underlying their pathogenicity remains poorly understood. In this work, we identified and comprehensively characterized a novel hemizygous AIFM1 mutation c.1006G > A (E336K) in a male patient presenting with a progressive hereditary axonal...
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