The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Satoyoshi, 1977, Oculopharyngodistal myopathy, Arch. Neurol., 34, 89, 10.1001/archneur.1977.00500140043007 Durmus, 2011, Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients, Neurology, 76, 227, 10.1212/WNL.0b013e318207b043 Lu, 2008, The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family, Neuropathology, 28, 599, 10.1111/j.1440-1789.2008.00924.x Ishiura, 2019, Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease, Nat. Genet., 51, 1222, 10.1038/s41588-019-0458-z Deng, 2020, Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy, Am. J. Hum. Genet., 106, 793, 10.1016/j.ajhg.2020.04.011 Xi, 2021, 5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy, Brain, 144, 601, 10.1093/brain/awaa426 Yu, 2021, The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3, Brain, 144, 1819, 10.1093/brain/awab077 Ogasawara, 2020, CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations, Acta Neuropathol. Commun., 8, 204, 10.1186/s40478-020-01084-4 Deng, 2019, Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease, J. Med. Genet., 56, 758, 10.1136/jmedgenet-2019-106268 Sone, 2019, Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease, Nat. Genet., 51, 1215, 10.1038/s41588-019-0459-y Tian, 2019, Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders, Am. J. Hum. Genet., 105, 166, 10.1016/j.ajhg.2019.05.013 Wang, 2004, A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34, Mol. Biol. Cell, 15, 815, 10.1091/mbc.e03-06-0413 Schaub, 2013, The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content, Mol. Biol. Cell, 24, 453, 10.1091/mbc.e12-08-0598 Sobu, 2021, Pathogenic LRRK2 regulates ciliation probability upstream of tau tubulin kinase 2 via Rab10 and RILPL1 proteins, Proc. Natl. Acad. Sci. USA, 118, 10.1073/pnas.2005894118 Lara Ordónez, 2019, RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits, Hum. Mol. Genet., 28, 3552, 10.1093/hmg/ddz201 LaCroix, 2019, GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome, Am. J. Hum. Genet., 104, 35, 10.1016/j.ajhg.2018.11.005 Depienne, 2021, 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?, Am. J. Hum. Genet., 108, 764, 10.1016/j.ajhg.2021.03.011 Sellier, 2017, Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome, Neuron, 93, 331, 10.1016/j.neuron.2016.12.016 Boivin, 2021, Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases, Neuron, 109, 1825, 10.1016/j.neuron.2021.03.038 Sun, 2020, Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor, Brain, 143, 222, 10.1093/brain/awz372 Westenberger, 2020, Essential phenotypes of NOTCH2NLC-related repeat expansion disorder, Brain, 143, 5, 10.1093/brain/awz404 Deng, 2021, Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease, J. Med. Genet. Fukuda, 2021, Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing, Clin. Epigenetics, 13, 204, 10.1186/s13148-021-01192-5 Paulson, 2018, Repeat expansion diseases, Handb. Clin. Neurol., 147, 105, 10.1016/B978-0-444-63233-3.00009-9