{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T03:16:34Z","timestamp":1777605394251,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001279","name":"Great Ormond Street Hospital Charity","doi-asserted-by":"publisher","award":["V5018"],"award-info":[{"award-number":["V5018"]}],"id":[{"id":"10.13039\/501100001279","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Exp Neurosci"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1) gene, while less than 5% of cases are attributed to genes other than SMN. Mutations in LMNA, the lamin A\/C encoding gene, cause an adult form of spinal muscular atrophy (SMA), and in our recent work, we highlight a role for lamin A\/C in SMN-related SMA pathways. Here, we discuss this apparent molecular crosstalk between different types of SMA in context with previous work, showing that dysregulation of proteins produced by other SMA-causing genes, including UBE1, GARS, and SETX, are also implicated in SMN-related SMA pathways. The perturbation of UBE1, GARS, and lamin A\/C help explain mechanisms of tissue-specific pathology in SMA, and we propose Wnt\/\u03b2-catenin signalling as a common molecular pathway on which they each converge. Therapeutic strategies directed at these proteins, or their convergent pathways, may therefore offer a new approach to targeting tissue-specific pathology in SMN-related SMA.<\/jats:p>","DOI":"10.1177\/2633105520914301","type":"journal-article","created":{"date-parts":[[2020,3,30]],"date-time":"2020-03-30T04:01:18Z","timestamp":1585540878000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy"],"prefix":"10.1177","volume":"15","author":[{"given":"Darija","family":"\u0160olti\u0107","sequence":"first","affiliation":[{"name":"Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK"},{"name":"The School of Pharmacy and Bioengineering, Keele University, Keele, 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