"ALS Associated Mutations In Matrin 3 Alter Protein-Protein Interaction" by Ashley Boehringer, Krystine Garcia-Mansfield et al.
 

Department

neurobiology

Document Type

Article

Abstract

Mutations in Matrin 3 have recently been linked to ALS, though the mechanism that induces disease in these patients is unknown. To define the protein interactome of wild-type and ALS-linked MATR3 mutations, we performed immunoprecipitation followed by mass spectrometry using NSC-34 cells expressing human wild-type or mutant Matrin 3. Gene ontology analysis identified a novel role for Matrin 3 in mRNA transport centered on proteins in the TRanscription and EXport (TREX) complex, known to function in mRNA biogenesis and nuclear export. ALS-linked mutations in Matrin 3 led to its re-distribution within the nucleus, decreased co-localization with endogenous Matrin 3 and increased co-localization with specific TREX components. Expression of disease-causing Matrin 3 mutations led to nuclear mRNA export defects of both global mRNA and more specifically the mRNA of TDP-43 and FUS. Our findings identify a potential pathogenic mechanism attributable to MATR3 mutations and further link cellular transport defects to ALS.

Publication Date

12-1-2017

Publication Title

Scientific Reports

ISSN

20452322

Volume

7

Issue

1

Digital Object Identifier (DOI)

10.1038/s41598-017-14924-6

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