Article
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Journal of medical genetics - 1 Jan 2018
Marin-Valencia Isaac, Novarino Gaia, Johansen Anide, Rosti Basak, Issa Mahmoud Y, Musaev Damir, Bhat Gifty, Scott Eric, Silhavy Jennifer L, Stanley Valentina, Rosti Rasim O, Gleeson Jeremy W, Imam Farhad B, Zaki Maha S, Gleeson Joseph G
Abstract excerpt
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain. OBJECTIVE: We...
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