Literature DB >> 35292735

A cryptic fault.

Natasha Bray1.   

Abstract

Entities:  

Year:  2022        PMID: 35292735     DOI: 10.1038/s41583-022-00580-x

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN: 1471-003X            Impact factor:   34.870


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  2 in total

1.  TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

Authors:  Anna-Leigh Brown; Oscar G Wilkins; Matthew J Keuss; Sarah E Hill; Matteo Zanovello; Weaverly Colleen Lee; Alexander Bampton; Flora C Y Lee; Laura Masino; Yue A Qi; Sam Bryce-Smith; Ariana Gatt; Martina Hallegger; Delphine Fagegaltier; Hemali Phatnani; Jia Newcombe; Emil K Gustavsson; Sahba Seddighi; Joel F Reyes; Steven L Coon; Daniel Ramos; Giampietro Schiavo; Elizabeth M C Fisher; Towfique Raj; Maria Secrier; Tammaryn Lashley; Jernej Ule; Emanuele Buratti; Jack Humphrey; Michael E Ward; Pietro Fratta
Journal:  Nature       Date:  2022-02-23       Impact factor: 69.504

2.  TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.

Authors:  X Rosa Ma; Mercedes Prudencio; Yuka Koike; Sarat C Vatsavayai; Garam Kim; Fred Harbinski; Adam Briner; Caitlin M Rodriguez; Caiwei Guo; Tetsuya Akiyama; H Broder Schmidt; Beryl B Cummings; David W Wyatt; Katherine Kurylo; Georgiana Miller; Shila Mekhoubad; Nathan Sallee; Gemechu Mekonnen; Laura Ganser; Jack D Rubien; Karen Jansen-West; Casey N Cook; Sarah Pickles; Björn Oskarsson; Neill R Graff-Radford; Bradley F Boeve; David S Knopman; Ronald C Petersen; Dennis W Dickson; James Shorter; Sua Myong; Eric M Green; William W Seeley; Leonard Petrucelli; Aaron D Gitler
Journal:  Nature       Date:  2022-02-23       Impact factor: 69.504

  2 in total

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