Article
Ftd/Als Type 7–Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator, in N1E-115 Cells
2023-06-19
Abstract excerpt
Frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (FTD/ALS7) is an autosomal dominant neurodegenerative disorder characterized by the onset of ALS and/or FTD mainly in adulthood. Patients with some types of mutations, including the Thr104Asn (T104N) mutation of charged multivesicular body protein 2B (CHMP2B), have predominantly ALS phenotypes, whereas patients with other mutations have predominan...
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Identifiers and source
- Literature Corpus work
- 71d0bfa9-a4b5-5443-a50a-0bdd21a67157
- DOI
- 10.20944/preprints202306.1295.v1
