Article
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Human molecular genetics - 3 Jun 2020
Woldegebriel Rosa, Kvist Jouni, Andersson Noora, Õunap Katrin, Reinson Karit, Wojcik Monica H, Bijlsma Emilia K, Hoffer Mariëtte J V, Ryan Monique M, Stark Zornitza, Walsh Maie, Cuppen Inge, van den Boogaard Marie-Jose H, Bharucha-Goebel Diana, Donkervoort Sandra, Winchester Sara, Zori Roberto, Bönnemann Carsten G, Maroofian Reza, O'Connor Emer, Houlden Henry, Zhao Fang, Carpén Olli, White Matthew, Sreedharan Jemeen, Stewart Murray, Ylikallio Emil, Tyynismaa Henna
Abstract excerpt
Defects in the mRNA export scaffold protein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy with or without intellectual disability. We extend here the phenotypic range associated with MCM3AP variants, by describing a severely hypotonic child and a sibling pair with a progressive encephalopathic syndrome. In addition, our analysis of skin fibroblasts from affected...
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