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.