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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Landouré G, et al. Among authors: sullivan jm. Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675077 Free PMC article. No abstract available.
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ. Sullivan JM, et al. J Clin Invest. 2020 Mar 2;130(3):1506-1512. doi: 10.1172/JCI128152. J Clin Invest. 2020. PMID: 32065591 Free PMC article.
TRPV4 Antagonism Prevents Mechanically Induced Myotonia.
Dupont C, Novak K, Denman K, Myers JH, Sullivan JM, Walker PV 2nd, Brown NL, Ladle DR, Bogdanik L, Lutz CM, A Voss A, Sumner CJ, Rich MM. Dupont C, et al. Among authors: sullivan jm. Ann Neurol. 2020 Aug;88(2):297-308. doi: 10.1002/ana.25780. Epub 2020 Jun 22. Ann Neurol. 2020. PMID: 32418267 Free PMC article.
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2.
Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell KT, Yang Y, Mamah C, Aisenberg WH, Saavedra-Rivera PC, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, Sumner CJ, Lloyd TE. Woolums BM, et al. Among authors: sullivan jm. Nat Commun. 2020 May 29;11(1):2679. doi: 10.1038/s41467-020-16411-5. Nat Commun. 2020. PMID: 32471994 Free PMC article.
Multiubiquitination of TRPV4 reduces channel activity independent of surface localization.
Aisenberg WH, McCray BA, Sullivan JM, Diehl E, DeVine LR, Alevy J, Bagnell AM, Carr P, Donohue JK, Goretzki B, Cole RN, Hellmich UA, Sumner CJ. Aisenberg WH, et al. Among authors: sullivan jm. J Biol Chem. 2022 Apr;298(4):101826. doi: 10.1016/j.jbc.2022.101826. Epub 2022 Mar 14. J Biol Chem. 2022. PMID: 35300980 Free PMC article.
429 results