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Article

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

PLoS genetics - 1 Mar 2022

Rawlins Lettie E, Almousa Hashem, Khan Shazia, Collins Stephan C, Milev Miroslav P, Leslie Joseph, Saint-Dic Djenann, Khan Valeed, Hincapie Ana Maria, Day Jacob O, McGavin Lucy, Rowley Christine, Harlalka Gaurav V, Vancollie Valerie E, Ahmad Wasim, Lelliott Christopher J, Gul Asma, Yalcin Binnaz, Crosby Andrew H, Sacher Michael, Baple Emma L

Abstract excerpt

The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex, in individuals with a severe microcephalic neurodevelopmental disorder. Molecular studies revealed a weakened interaction between mutant TRAPPC10 and its putative...

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PMID: 35298461
DOI: 10.1371/journal.pgen.1010114
PMCID: PMC8963566

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