{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:33:03Z","timestamp":1740130383870,"version":"3.37.3"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T00:00:00Z","timestamp":1710288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008131","name":"University of Bonn","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008131","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Full-length RIM1 and 2 are key components of the presynaptic active zone that ubiquitously control excitatory and inhibitory neurotransmitter release. Here, we report that the function of the small RIM isoform RIM4, consisting of a single C2 domain, is strikingly different from that of the long isoforms.<\/jats:p>\n               <jats:p>RIM4 is dispensable for neurotransmitter release but plays a postsynaptic, cell type-specific role in cerebellar Purkinje cells that is essential for normal motor function. In the absence of RIM4, Purkinje cell intrinsic firing is reduced and caffeine-sensitive, and dendritic integration of climbing fibre input is disturbed. Mice lacking RIM4, but not mice lacking RIM1\/2, selectively in Purkinje cells exhibit a severe, hours-long paroxysmal dystonia. These episodes can also be induced by caffeine, ethanol or stress and closely resemble the deficits seen with mutations of the PNKD (paroxysmal non-kinesigenic dystonia) gene.<\/jats:p>\n               <jats:p>Our data reveal essential postsynaptic functions of RIM proteins and show non-overlapping specialized functions of a small isoform despite high homology to a single domain in the full-length proteins.<\/jats:p>","DOI":"10.1093\/brain\/awae081","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T20:11:14Z","timestamp":1710360674000},"page":"3171-3188","source":"Crossref","is-referenced-by-count":1,"title":["Paroxysmal dystonia results from the loss of RIM4 in Purkinje cells"],"prefix":"10.1093","volume":"147","author":[{"given":"Hyuntae","family":"Kim","sequence":"first","affiliation":[{"name":"Synaptic Neuroscience Team, Department of Neurosurgery, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesrine","family":"Melliti","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Institute of Neuropathology, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Breithausen","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Institute of Neuropathology, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Michel","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Institute of Neuropathology, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara Ferrando","family":"Colomer","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Department of Neurosurgery, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina","family":"Poguzhelskaya","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Department of Neurosurgery, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Nemcova","sequence":"additional","affiliation":[{"name":"Synaptic Neuroscience Team, Department of Neurosurgery, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Ewell","sequence":"additional","affiliation":[{"name":"School of Medicine, UC Irvine , 92697 Irvine , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Blaess","sequence":"additional","affiliation":[{"name":"Institute of Reconstructive Neurobiology, University Hospital Bonn , 53127 Bonn , 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