Proteomics

Dataset Information

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Emc1_Marquez - Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects


ABSTRACT: Experiment consisted of MO knockdown of emc1 in Xenopus and comparison of proteome in emc1 depleted stage 24 embryos vs MO control injected embryos.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Xenopus Tropicalis

TISSUE(S): Whole Body, Early Embryonic Cell

DISEASE(S): Congenital Heart Disease

SUBMITTER: Jonathan Marquez  

LAB HEAD: Mustafa K Khokha

PROVIDER: PXD012770 | Pride | 2020-01-09

REPOSITORIES: Pride

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Publications

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.

Marquez Jonathan J   Criscione June J   Charney Rebekah M RM   Prasad Maneeshi S MS   Hwang Woong Y WY   Mis Emily K EK   García-Castro Martín I MI   Khokha Mustafa K MK  

The Journal of clinical investigation 20200201 2


Multipass membrane proteins have a myriad of functions, including transduction of cell-cell signals, ion transport, and photoreception. Insertion of these proteins into the membrane depends on the endoplasmic reticulum (ER) membrane protein complex (EMC). Recently, birth defects have been observed in patients with variants in the gene encoding a member of this complex, EMC1. Patient phenotypes include congenital heart disease, craniofacial malformations, and neurodevelopmental disease. However,  ...[more]

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