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APOE3-Jacksonville (V236E) variant reduces self-aggregation and risk of dementia.
Liu CC, Murray ME, Li X, Zhao N, Wang N, Heckman MG, Shue F, Martens Y, Li Y, Raulin AC, Rosenberg CL, Doss SV, Zhao J, Wren MC, Jia L, Ren Y, Ikezu TC, Lu W, Fu Y, Caulfield T, Trottier ZA, Knight J, Chen Y, Linares C, Wang X, Kurti A, Asmann YW, Wszolek ZK, Smith GE, Vemuri P, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Parisi JE, Ferman TJ, Boeve BF, Graff-Radford NR, Petersen RC, Younkin SG, Fryer JD, Wang H, Han X, Frieden C, Dickson DW, Ross OA, Bu G. Liu CC, et al. Among authors: caulfield t. Sci Transl Med. 2021 Sep 29;13(613):eabc9375. doi: 10.1126/scitranslmed.abc9375. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586832 Free PMC article.
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Ash PE, et al. Among authors: caulfield t. Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004. Epub 2013 Feb 12. Neuron. 2013. PMID: 23415312 Free PMC article.
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Gendron TF, et al. Among authors: caulfield t. Acta Neuropathol. 2013 Dec;126(6):829-44. doi: 10.1007/s00401-013-1192-8. Epub 2013 Oct 16. Acta Neuropathol. 2013. PMID: 24129584 Free PMC article.
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.
Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, Whitelaw E, Ash PE, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Zhang YJ, et al. Among authors: caulfield t. Acta Neuropathol. 2014 Oct;128(4):505-24. doi: 10.1007/s00401-014-1336-5. Epub 2014 Aug 31. Acta Neuropathol. 2014. PMID: 25173361 Free PMC article.
(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation.
Fiesel FC, Ando M, Hudec R, Hill AR, Castanedes-Casey M, Caulfield TR, Moussaud-Lamodière EL, Stankowski JN, Bauer PO, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Siuda J, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Dickson DW, Springer W. Fiesel FC, et al. EMBO Rep. 2015 Sep;16(9):1114-30. doi: 10.15252/embr.201540514. Epub 2015 Jul 10. EMBO Rep. 2015. PMID: 26162776 Free PMC article.
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: caulfield tr. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: caulfield tr. Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. Brain. 2017. PMID: 28379295 Free PMC article. No abstract available.
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Ando M, Fiesel FC, Hudec R, Caulfield TR, Ogaki K, Górka-Skoczylas P, Koziorowski D, Friedman A, Chen L, Dawson VL, Dawson TM, Bu G, Ross OA, Wszolek ZK, Springer W. Ando M, et al. Mol Neurodegener. 2017 Apr 24;12(1):32. doi: 10.1186/s13024-017-0174-z. Mol Neurodegener. 2017. PMID: 28438176 Free PMC article.
379 results