Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.

doi:10.1016/j.neuron.2024.10.007

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Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.

Neuron - 18 Dec 2024

Al-Azzam Norah, To Jenny H, Gautam Vaishali, Street Lena A, Nguyen Chloe B, Naritomi Jack T, Lam Dylan C, Madrigal Assael A, Lee Benjamin, Jin Wenhao, Avina Anthony, Mizrahi Orel, Mueller Jasmine R, Ford Willard, Schiavon Cara R, Rebollo Elena, Vu Anthony Q, Blue Steven M, Madakamutil Yashwin L, Manor Uri, Rothstein Jeffrey D, Coyne Alyssa N, Jovanovic Marko, Yeo Gene W

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is linked to the reduction of certain nucleoporins in neurons. Increased nuclear localization of charged multivesicular body protein 7 (CHMP7), a protein involved in nuclear pore surveillance, has been identified as a key factor damaging nuclear pores and disrupting transport. Using CRISPR-based microRaft, followed by gRNA identification (CRaft-ID), we discovered 55 RNA-binding...

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PMID: 39486415
DOI: 10.1016/j.neuron.2024.10.007

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