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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: gatt a. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
Bampton A, Gatt A, Humphrey J, Cappelli S, Bhattacharya D, Foti S, Brown AL, Asi Y, Low YH, Foiani M, Raj T, Buratti E, Fratta P, Lashley T. Bampton A, et al. Among authors: gatt a. Acta Neuropathol. 2021 Oct;142(4):609-627. doi: 10.1007/s00401-021-02340-0. Epub 2021 Jul 18. Acta Neuropathol. 2021. PMID: 34274995 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 35108834
Mitochondrial retrograde signaling regulates neuronal function.
Cagin U, Duncan OF, Gatt AP, Dionne MS, Sweeney ST, Bateman JM. Cagin U, et al. Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):E6000-9. doi: 10.1073/pnas.1505036112. Epub 2015 Oct 21. Proc Natl Acad Sci U S A. 2015. PMID: 26489648 Free PMC article.
214 results