eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

Autor: Lindsey D. Goodman, Mercedes Prudencio, Ananth R. Srinivasan, Olivia M. Rifai, Virginia M.-Y. Lee, Leonard Petrucelli, Nancy M. Bonini

Publikováno v: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)

Abstract The discovery of an expanded (GGGGCC)n repeat (termed G4C2) within the first intron of C9orf72 in familial ALS/FTD has led to a number of studies showing that the aberrant expression of G4C2 RNA can produce toxic dipeptides through repeat-as

Externí odkaz: https://doaj.org/article/7019a317a5864515b0fcf28779ee886e

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

FUS contributes to mTOR-dependent inhibition of translation

Autor: Chantelle F. Sephton, Paul A. Dutchak, Janani Priya Venkatasubramani, Myriam Sévigny, Isabelle Bourdeau Julien, Jeremy B. Hui

Publikováno v: The Journal of Biological Chemistry

The amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)–linked RNA-binding protein called FUS (fused in sarcoma) has been implicated in several aspects of RNA regulation, including mRNA translation. The mechanism by which FUS affe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53810c83fe7d3bfbf55606b23dbccf1f
https://doi.org/10.1074/jbc.ra120.013801

Drosophila Ref1/ALYREF regulates transcription and toxicity associated with ALS/FTD disease etiologies

Autor: Nancy M. Bonini, John Q. Trojanowski, Ashley Sartoris, Virginia M.-Y. Lee, Amit Berson, Charlton G. Otte, Lindsey D. Goodman, James A. Aykit

Publikováno v: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-10 (2019)

RNA-binding proteins (RBPs) are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the underlying disease mechanisms remain unclear. In an unbiased screen in Drosophila for RBPs that genetically interact with T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f70a79e3216c2b282990bdb51ef9adf
https://doi.org/10.1186/s40478-019-0710-x

Stability of an aggregation-prone partially folded state of human profilin-1 correlates with aggregation propensity

Autor: Francesco Di Piro, Chiara Aloise, Edoardo Del Poggetto, Francesco Bemporad, Ludovica Gori, Francesco Malatesta, Angelo Toto, Stefano Gianni, Fabrizio Chiti

Publikováno v: The Journal of biological chemistry
293 (2018): 10303–10313. doi:10.1074/jbc.RA118.002087
info:cnr-pdr/source/autori:Del Poggetto E.; Toto A.; Aloise C.; Di Piro F.; Gori L.; Malatesta F.; Gianni S.; Chiti F.; Bemporad F./titolo:Stability of an aggregation-prone partially folded state of human profilin-1 correlates with aggregation propensity/doi:10.1074%2Fjbc.RA118.002087/rivista:The Journal of biological chemistry (Print)/anno:2018/pagina_da:10303/pagina_a:10313/intervallo_pagine:10303–10313/volume:293

A set of missense mutations in the gene encoding profilin-1 has been linked to the onset of familial forms of ALS (fALS), also known as Lou Gehrig's disease. The pathogenic potential of these mutations is linked to the formation of intracellular incl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::419e241ca6d1969180521b6f7faa8a67
https://europepmc.org/articles/PMC6028969/