{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:33:11Z","timestamp":1792787591917,"version":"4.5.0"},"reference-count":73,"publisher":"American Society for Clinical Investigation","issue":"12","funder":[{"name":"Jerome Lejeune Foundation; The Foundation for Prader Willi Research;  Seal of Excellence by the European Union\u2019s Horizon 2020; Norwegian Cancer Society","award":["Grant Agreements No 1599-TV2016B,N 753417,Grant number 198016-2018"],"award-info":[{"award-number":["Grant Agreements No 1599-TV2016B,N 753417,Grant number 198016-2018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,6,18]]},"abstract":"<jats:p>\n                    Imprinted genes are highly expressed in the hypothalamus; however, whether specific imprinted genes affect hypothalamic neuromodulators and their functions is unknown. It has been suggested that Prader\u2013Willi syndrome (PWS), a neurodevelopmental disorder caused by lack of paternal expression at chromosome 15q11\u2013q13, is characterized by hypothalamic insufficiency. Here, we investigate the role of the paternally expressed\n                    <jats:italic>Snord116<\/jats:italic>\n                    gene within the context of sleep and metabolic abnormalities of PWS, and we report a significant role of this imprinted gene in the function and organization of the 2 main neuromodulatory systems of the lateral hypothalamus (LH) \u2014 namely, the orexin (OX) and melanin concentrating hormone (MCH) \u2014 systems. We observed that the dynamics between neuronal discharge in the LH and the sleep-wake states of mice with paternal deletion of\n                    <jats:italic>Snord116<\/jats:italic>\n                    (PWScr\n                    <jats:sup>m+\/p\u2013<\/jats:sup>\n                    ) are compromised. This abnormal state\u2013dependent neuronal activity is paralleled by a significant reduction in OX neurons in the LH of mutant mice. Therefore, we propose that an imbalance between OX- and MCH-expressing neurons in the LH of mutant mice reflects a series of deficits manifested in the PWS, such as dysregulation of rapid eye movement (REM) sleep, food intake, and temperature control.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.137495","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T17:53:57Z","timestamp":1588614837000},"source":"Crossref","is-referenced-by-count":32,"title":["Loss of Snord116 impacts lateral hypothalamus, sleep, and food-related behaviors"],"prefix":"10.1172","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1637-4544","authenticated-orcid":true,"given":"Marta","family":"Pace","sequence":"first","affiliation":[{"name":"Genetics and Epigenetics of Behaviour Laboratory, Istituto Italiano di Tecnologia, via Morego 30, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8168-5106","authenticated-orcid":true,"given":"Matteo","family":"Falappa","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics of Behaviour Laboratory, Istituto Italiano di Tecnologia, via Morego 30, Italy."},{"name":"Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DINOGMI), Universita\u0300 degli Studi di Genova, Genova, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Freschi","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics of Behaviour Laboratory, Istituto Italiano di Tecnologia, via Morego 30, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Balzani","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics of Behaviour Laboratory, Istituto Italiano di Tecnologia, via Morego 30, 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