{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:15:57Z","timestamp":1789942557442,"version":"4.0.1"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T00:00:00Z","timestamp":1554163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100011102","name":"Seventh Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"name":"A.MIDEX foundation"},{"DOI":"10.13039\/501100002708","name":"Agence Universitaire de la Francophonie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013465","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot\u2013Marie\u2013Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system.<\/jats:p>\n               <jats:p>Here, we describe two new compound heterozygous mutations in VRK1, the vaccinia-related kinase 1 gene, in two siblings from a Lebanese family, affected with dHMN associated with upper motor neurons (MNs) signs. The mutations lead to severely reduced levels of VRK1 by impairing its stability, and to a shift of nuclear VRK1 to cytoplasm. Depletion of VRK1 from the nucleus alters the dynamics of coilin, a phosphorylation target of VRK1, by reducing its stability through increased proteasomal degradation. In human-induced pluripotent stem cell-derived MNs from patients, we demonstrate that this drop in VRK1 levels leads to Cajal bodies (CBs) disassembly and to defects in neurite outgrowth and branching. Mutations in VRK1 have been previously reported in several neurological diseases affecting lower or both upper and lower MNs. Here, we describe a new phenotype linked to VRK1 mutations, presenting as a classical slowly progressive motor neuropathy, beginning in the second decade of life, with associated upper MN signs. We provide, for the first time, evidence for a role of VRK1 in regulating CB assembly in MNs. The observed MN defects are consistent with a length dependent axonopathy affecting lower and upper MNs, and we propose that diseases due to mutations in VRK1 should be grouped under a unique entity named `VRK1-related motor neuron disease\u2019.<\/jats:p>","DOI":"10.1093\/hmg\/ddz060","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T08:12:26Z","timestamp":1553760746000},"page":"2378-2394","source":"Crossref","is-referenced-by-count":28,"title":["Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1"],"prefix":"10.1093","volume":"28","author":[{"given":"Lara","family":"El-Bazzal","sequence":"first","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalil","family":"Rihan","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bernard-Marissal","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Castro","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Chouery-Khoury","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale, Universit\u00e9 Saint Joseph, Campus des Sciences M\u00e9dicales, Beirut, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Desvignes","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Atkinson","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Bertaux","sequence":"additional","affiliation":[{"name":"Medical Genetics, Biological Resource Center\u2014Tissue, DNA, Cells, CRB TAC, La Timone Children\u2019s Hospital, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salam","family":"Koussa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Lebanese University Hospital-Geitaoui, Beirut, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"L\u00e9vy","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"},{"name":"Department of Medical Genetics, Children\u2019s Hospital La Timone, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bartoli","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[{"name":"Centre M\u00e9dical et Psychop\u00e9dagogique, Beirut, Lebanon"},{"name":"Institut J\u00e9r\u00f4me Lejeune, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosette","family":"Jabbour","sequence":"additional","affiliation":[{"name":"Neurology Division, Department of Internal Medicine, St George Hospital University Medical Center, University of Balamand, Beirut, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2652-362X","authenticated-orcid":false,"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,4,2]]},"reference":[{"key":"2019070301125292900_ref1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot\u2013Marie\u2013Tooth\u2019s disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin. 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