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

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 neurod...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2022-03-01
Colecção:PLoS Genetics
Acesso em linha:https://doi.org/10.1371/journal.pgen.1010114
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados