Assessing actin-pathway interactions in variants identified in patients with ocular coloboma

ABSTRACT: We used whole exome sequence to identify de novo mutations in patients with ocular coloboma. Three of these encoded actin pathway components, ACTG1, TWF1 and LCP1. Mass spectrometry-based interactomes of wild-type and mutant proteins were performed to reveal altered functional interactions for all three variants.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Embryo, Early Embryonic Cell

DISEASE(S): Coloboma

SUBMITTER: Dominic Kurian  

LAB HEAD: Dominic Kurian

PROVIDER: PXD005090 | Pride | 2017-05-24

REPOSITORIES: Pride