{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T10:12:33Z","timestamp":1760609553918,"version":"3.41.2"},"reference-count":77,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T00:00:00Z","timestamp":1693958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle hypotonia. PMS is caused by a heterozygous deletion of the distal end of chromosome 22q13.3 or <jats:italic>SHANK3<\/jats:italic> mutations. We analyzed striated muscles of newborn <jats:italic>Shank3\u039411(\u2212\/\u2212)<\/jats:italic> animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult <jats:italic>Shank3\u039411(\u2212\/\u2212)<\/jats:italic> mice, indicative of a Shank3-dependent and not compensatory mechanism for this structural alteration. We analyzed transcriptional differences by RNA-sequencing of muscle tissue of neonatal <jats:italic>Shank3\u039411(\u2212\/\u2212)<\/jats:italic> mice and compared those to <jats:italic>Shank3(+\/+)<\/jats:italic> controls. We found significant differences in gene expression of ion channels crucial for muscle contraction and for molecules involved in calcium ion regulation. In addition, calcium storage- [i.e., Calsequestrin (CSQ)], calcium secretion- and calcium-related signaling-proteins were found to be affected. By immunostainings and Western blot analyses we could confirm these findings both in <jats:italic>Shank3\u039411(\u2212\/\u2212)<\/jats:italic> mice and PMS patient muscle tissue. Moreover, alterations could be induced <jats:italic>in vitro<\/jats:italic> by the selective downregulation of Shank3 in C2C12 myotubes. Our results emphasize that SHANK3 levels directly or indirectly regulate calcium homeostasis in a cell autonomous manner that might contribute to muscular hypotonia especially seen in the newborn.<\/jats:p>","DOI":"10.3389\/fcell.2023.1243299","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T15:03:11Z","timestamp":1694012591000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue"],"prefix":"10.3389","volume":"11","author":[{"given":"Berra","family":"Yildiz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Schiedt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Medhanie","family":"Mulaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Bockmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Jesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Kathrin","family":"Lutz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias M.","family":"Boeckers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,9,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1016\/S1734-1140(09)70139-2","article-title":"Commonly used ryanodine receptor activator, 4-chloro-m-cresol (4CmC), is also an inhibitor of SERCA Ca2+ pumps","volume":"61","author":"Al-Mousa","year":"2009","journal-title":"Pharmacol. 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