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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/tdp-43-loss-and-als-risk-snps-drive-mis-splicing-and-depletion-of-unc13a/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Anna‐Leigh Brown,Oscar G. Wilkins,Matthew J. Keuss,Sarah E. Hill,Matteo Zanovello,Weaverly Colleen Lee,Alexander Bampton,Flora Lee,Laura Masino,Yue Qi,Sam Bryce-Smith,Ariana Gatt,Martina Hallegger,Delphine Fagegaltier,Hemali Phatnani,Hemali Phatnani,Justin Kwan,Dhruv Sareen,James R. Broach,Zachary Simmons,Ximena Arcila-Londono,Edward B. Lee,Vivianna M. Van Deerlin,Neil A. Shneider,Ernest Fraenkel,Lyle W. Ostrow,Frank Baas,Noah Zaitlen,James D. Berry,Andrea Malaspina,Pietro Fratta,Gregory A. Cox,Leslie M. Thompson,Steven Finkbeiner,Efthimios Dardiotis,Timothy M. Miller,Siddharthan Chandran,Suvankar Pal,Eran Hornstein,Daniel J. MacGowan,Terry Heiman‐Patterson,Molly Hammell,Nikolaos A. Patsopoulos,Oleg Butovsky,Josh Dubnau,Avindra Nath,Robert Bowser,Matthew B. Harms,Eleonora Aronica,Mary Poss,Jennifer E. Phillips‐Cremins,John F. Crary,Nazem Atassi,Dale J. Lange,Darius J. Adams,Leonidas Stefanis,Marc Gotkine,Robert H. Baloh,Suma Babu,Towfique Raj,Sabrina Paganoni,Ophir Shalem,Colin Smith,Bin Zhang,Brent T. Harris,Iris Broce,Vivian E. Drory,John Ravits,Corey T. McMillan,Vilas Menon,Lani F. Wu,Steven J. Altschuler,Yossef Lerner,Rita Sattler,Kendall Van Keuren‐Jensen,Orit Rozenblatt–Rosen,Kerstin Lindblad‐Toh,Katharine Nicholson,Peter K. Gregersen,Jeong‐Ho Lee,Sulev Kõks,Stephen Muljo,Jia Newcombe,Emil K. Gustavsson,Sahba Seddighi,Joel F. Reyes,Steven L. Coon,Daniel M. Ramos,Giampietro Schiavo,Elizabeth Fisher,Towfique Raj,Maria Secrier,Tammaryn Lashley,Jernej Ule,Emanuele Buratti,Jack Humphrey,Michael E. Ward,Pietro Fratta |
| Citations | 530 |
| DOI | 10.1038/s41586-022-04436-3 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://www.nature.com/articles/s41586-022-04436-3.pdf |
| OpenAlex ID | https://openalex.org/W4213435307 |
| PMID | 35197628 |
| Type | article |
| Year | 2022 |

## Paper authors

- [Peter K. Gregersen](https://scholariq.org/researchers/peter-k-gregersen/)
- [Leonidas Stefanis](https://scholariq.org/researchers/leonidas-stefanis/)

## Paper journal

- [Nature](https://scholariq.org/journals/nature/)

## Paper primary topic

- [Amyotrophic Lateral Sclerosis Research](https://scholariq.org/topics/amyotrophic-lateral-sclerosis-research/)

## Paper topics

- [Amyotrophic Lateral Sclerosis Research](https://scholariq.org/topics/amyotrophic-lateral-sclerosis-research/)
- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.