Inmaculada Fuentes-Martínez

A zebrafish model of NEXMIF-related encephalopathy identified drivers of hyperlocomotion and provides a scalable platform for drug discovery

X-linked Intellectual Disability type 98 (XLID-98) is a neurodevelopmental disorder with a broad phenotypic spectrum caused by pathogenic variants in the neurite extension and migration factor ( NEXMIF ) gene, formerly known as KIAA2022, KIDLIA , or XPN (OMIM 300524). To investigate the pathogenic mechanisms of...