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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: ponna sk. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
Parkin cooperates with GDNF/RET signaling to prevent dopaminergic neuron degeneration.
Meka DP, Müller-Rischart AK, Nidadavolu P, Mohammadi B, Motori E, Ponna SK, Aboutalebi H, Bassal M, Annamneedi A, Finckh B, Miesbauer M, Rotermund N, Lohr C, Tatzelt J, Winklhofer KF, Kramer ER. Meka DP, et al. Among authors: ponna sk. J Clin Invest. 2015 May;125(5):1873-85. doi: 10.1172/JCI79300. Epub 2015 Mar 30. J Clin Invest. 2015. PMID: 25822020 Free PMC article.