Understanding the pathogenic mechanisms underlying a rare genetic form of hereditary spastic paraplegia (aka SINO syndrome) caused by mutations in the KIDINS220 gene
Alicja Krawczun-Rygmaczewska, Matteo Rossi Sebastiano, Filippo Santorelli, Giulia Caron, Giuseppe Ermondi, Fabio Benfenati, Fabrizia Cesca · FENS Forum 2024
SINO is a newly described syndrome characterized by Spastic paraplegia, Intellectual Disability, Nystagmus and Obesity, caused by heterozygous mutations in the KIDINS220 gene. KIDINS220 (kinase D interacting substrate of 220kDa) is a multi-functional scaffold protein abundantly expressed across the nervous system that participates in neural cell survival, maturation and plasticity. In our work, we study the physiopathology of KIDINS220 mutations following three parallel approaches. (i) We examined the molecular effects of KIDINS220 mutations in HEK293T and primary neurons. Immunocytochemistry
ePoster · Neuroscience