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Selected publications

McCray BA*, Fridman, V. Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease. Neurology. 2024 Dec 24;103(12)

Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, Searson PC, Sumner CJ. Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Sci Transl Med. 2024 May 22;16(748).

Berth SH, Vo L, Kwon DH, Grider T, Damayanti YS, Kosmanopoulos G, Fox A, Lau AR, Carr P, Donohue JK, Hoke M, Thomas S, Karim C, Fay AJ, Meltzer E, Crawford TO, Gaudet R, Shy ME, Hellmich UA, Lee SY, Sumner CJ, McCray BA. Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants. Brain. 2024 Jul. *Corresponding author

Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2024 Jun 25. Corresponding author

Goretzki B, Wiedemann C, McCray BA, Schäfer SL, Jansen J, Tebbe F, Mitrovic SA, Nöth J, Cabezudo AC, Donohue JK, Jeffries CM, Steinchen W, Stengel F, Sumner CJ, Hummer G, Hellmich UA. Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity. Nat Commun. 2023 Jul 13;14(1):4165.

Kwon DH, Zhang F, McCray BA, Feng S, Kumar M, Sullivan JM, Im W, Sumner CJ, Lee SY. TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease. Nat Commun. 2023 Jun 23;14(1):3732.

Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN. Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. Brain. 2023 Mar 22.

Bagnell AB, Sumner CJ, McCray BA. TRPV4: a trigger of pathological RhoA activation in neurological disease. Bioessays. 2022 Jun;44(6):e2100288. Corresponding author

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. Multi-ubiquitination of TRPV4 reduces channel activity independent of surface localization. J Biol Chem. 2022 Apr;298(4):101826.

Taga A, Peyton MA, Goretzki B, Gallagher TQ, Ritter A, Harper A, Crawford TO, Hellmich UA, Sumner CJ, McCray BA. TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function. Ann Clin Transl Neurol. 2022 Feb 16. Corresponding author

McCray BA, Diehl E, Sullivan JM, Aisenberg WH, Zaccor NW, Lau AR, Rich DJ, Goretzki B, Hellmich UA, Lloyd TE, Sumner CJ. Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. Nat Commun. 2021 Mar 4;12(1)1444. Co-corresponding author

McCray BA, Scherer SS. Axonal Charcot-Marie-Tooth disease: from common pathogenic mechanisms to emerging treatment opportunities. Neurotherapeutics. 2021 October 18(4):2269-85. Corresponding author

Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell KT, Yang Y, Mamah K, Aisenberg WH, Saveedra-Rivera PC, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, Sumner CJ, Lloyd TE. TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+. Nat Commun. 2020:11(1):2679.

McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. Autosomal Dominant TRPV4 Disorders. In: GeneReviews. 2014 May 15 [updated 2020 Sep 17].

McCray BA, Skordalaes E, Taylor JP. Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum Mol Genet. 2010 March 15;19 (6):1033-47.

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