Select Publications

  • Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

    Stephanie Efthymiou†, Marcello Scala†, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C. Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G. Nichols, Marie F Smeland, Conor McClenaghan. (2024) Brain, awae010, https://doi.org/10.1093/brain/awae010

  • Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS.

    McClenaghan C, Mukadam MA, Roeglin J, Tryon RC, Grabner M, Dayal A, Meyer GA, Nichols CG. (2023) EMBO Mol Med 7;15(6):e16883.

  • A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.

    Singh GK, McClenaghan C, Aggarwal M, Gu H, Remedi MS, Grange DK, Nichols CG. (2022) J Am Heart Assoc. 11(24):e027363.

  • Kir6.1 and SUR2B in Cantú syndrome.

    McClenaghan C, Nichols CG. (2022) Am J Physiol Cell Physiol. 1;323(3):C920-C935.

  • The mechanism of high-output cardiac hypertrophy arising from potassium channel gain-of-function in Cantú Syndrome.

    McClenaghan C, Huang Y, Matkovich SJ, Kovacs A, Weinheimer CJ, Perez R, Broekelmann TJ, Harter TM, Lee JM, Remedi MS, Nichols CG. (2020) Function 1 (1) zqaa004.

    *** Perspective in Function: “The Pathophysiology of Cardiac Abnormalities in Cantu Syndrome” Aziz Q, Tinker A.

  • Glibenclamide reverses cardiovascular abnormalities of Cantú syndrome driven by KATP channel overactivity.

    McClenaghan C, Huang Y, Yan Z, Harter TM, Halabi CM, Chalk R, Kovacs A, van Haaften G, Remedi MS, Nichols CG. (2020) J Clin Invest. 130(3):1116-1121.

    *** Comment in J Clin Invest: “The surprising complexity of KATP channel biology and of genetic diseases” Zhao G, Kaplan A, Greiser M, Lederer WJ.

  • ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

    Smeland MF*, McClenaghan C*, Roessler HI*, et al. (2019) Nature Communications. 10 (1), 4457.

    *** Equal Contribution

  • Cardiovascular consequences of KATP over-activity in Cantu Syndrome.

    Huang Y*, McClenaghan C*, Harter T, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England S, Kovacs A, Remedi MS, Nichols CG. (2018) JCI Insight. Aug 9;3(15)

    *** Equal Contribution

  • Polymodal activation of the TREK-2 K2P channel produces structurally distinct open states.

    McClenaghan C, Schewe M, Aryal P, Carpenter EP, Baukrowitz T, Tucker SJ. (2016) Journal of General Physiology. 147(6), 497-505.

    *** Article selected for JGP Special Collection on Membrane Structure and Dynamics, 2016.

  • K2P channel gating mechanisms revealed by structures of TREK-2 and a complex with Prozac.

    Dong YY, Pike ACW, Mackenzie A, McClenaghan C, Aryal P, Dong L, Quigley A, Grieben M, Goubin S, Mukhopadhyay S, Ruda GF, Clausen MV, Cao L, Brennan PE, Burgess-Brown NA, Sansom MSP, Tucker SJ, Carpenter EP. (2015) Science. 347(6227), 1256-1259.

“Always scribble, scribble, scribble! Eh! Mr. Gibbon?”

- King George III to historian Edward Gibbon when presented with the scholar’s six-volume history of the Roman Empire (according to Richard Holmes in “The Age of Wonder”). You can’t please everyone…