References

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. 2016. MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs. Ann Neurol 79:419–427.
Ando M, Okamoto Y, Yoshimura A, Yuan J-H, Hiramatsu Y, Higuchi Y, Hashiguchi A, Mitsui J, Ishiura H, Fukumura S, Matsushima M, Ochi N, et al. 2017. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. European Journal of Neurology.
Douse CH, Bloor S, Liu Y, Shamin M, Tchasovnikarova IA, Timms RT, Lehner PJ, Modis Y. 2018. Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms. Nature Communications 9:.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, et al. 2020. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. The American Journal of Human Genetics 107:352–363.
Inoue N. 1999. New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis. Human Molecular Genetics 8:1201–1207.
Jacquier A, Bellouze S, Blanchard S, Bohl D, Haase G. 2009. Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function. Human Molecular Genetics 18:2127–2139.
Laššuthová P, Šafka Brožková D, Krůtová M, Mazanec R, Züchner S, Gonzalez MA, Seeman P. 2016. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain 139:e26–e26.
Li D-Q, Nair SS, Ohshiro K, Kumar A, Nair VS, Pakala SB, Reddy SDN, Gajula RP, Eswaran J, Aravind L, Kumar R. 2012. MORC2 signaling integrates phosphorylation-dependent, ATPase-coupled chromatin remodeling during the DNA damage response. Cell Rep 2:1657–1669.
Liao X-H, Zhang Y, Dong W-J, Shao Z-M, Li D-Q. 2017. Chromatin remodeling protein MORC2 promotes breast cancer invasion and metastasis through a PRD domain-mediated interaction with CTNND1. Oncotarget 8:97941–97954.
Liu N, Lee CH, Swigut T, Grow E, Gu B, Bassik MC, Wysocka J. 2017. Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators. Nature 553:228–232.
Matsuda T, Cepko CL. 2004. Electroporation and RNA interference in the rodent retina in vivo and in vitro. Proceedings of the National Academy of Sciences 101:16–22.
Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L. 2002. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 12:631–638.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. 1998. Prediction of the Coding Sequences of Unidentified Human Genes. XII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro. DNA Research 5:355–364.
Peeters K, Chamova T, Jordanova A. 2014. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain 137:2879–2896.
Reddy UR, Venkatakrishnan G, Roy AK, Chen J, Hardy M, Mavilio F, Rovera G, Pleasure D, Ross AH. 1991. Characterization of two neuroblastoma cell lines expressing recombinant nerve growth factor receptors. J Neurochem 56:67–74.
Sánchez-Solana B, Li D-Q, Kumar R. 2014. Cytosolic functions of MORC2 in lipogenesis and adipogenesis. Biochim Biophys Acta 1843:316–326.
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, et al. 2019. Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations. Human Molecular Genetics.
Schottmann G, Wagner C, Seifert F, Stenzel W, Schuelke M. 2016. MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. Brain 139:e70–e70.
Semplicini C, Ollagnon-Roman E, Leonard-Louis S, Piguet-Lacroix G, Silvestre M, Latour P, Stojkovic T. 2017. High intra-familiar clinical variability in MORC2 mutated CMT2 patients. Brain 140:e21–e21.
Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, et al. 2016. Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease. Brain 139:62–72.
Shao Y, Li Y, Zhang J, Liu D, Liu F, Zhao Y, Shen T, Li F. 2010. Involvement of histone deacetylation in MORC2-mediated down-regulation of carbonic anhydrase IX. Nucleic Acids Res 38:2813–2824.
Tchasovnikarova IA, Timms RT, Douse CH, Roberts RC, Dougan G, Kingston RE, Modis Y, Lehner PJ. 2017. Hyperactivation of HUSH complex function by Charcot–Marie–Tooth disease mutation in MORC2. Nature Genetics 49:1035–1044.
Zanni G, Nardella M, Barresi S, Bellacchio E, Niceta M, Ciolfi A, Pro S, D’Arrigo S, Tartaglia M, Bertini E. 2017. De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. Brain 140:e34–e34.
Zhao X, Li X, Hu Z, Liu L, Xie Y, Tian T, Man J, Wang J, Zi X, Xia K, Tang B, Wei X, et al. 2016. MORC2 mutations in a cohort of Chinese patients with Charcot–Marie–Tooth disease type 2. Brain 139:e56–e56.