000264182 001__ 264182
000264182 005__ 20231120155358.0
000264182 0247_ $$2doi$$a10.3389/fcell.2023.1243299
000264182 0247_ $$2pmid$$apmid:37745298
000264182 0247_ $$2pmc$$apmc:PMC10511643
000264182 0247_ $$2altmetric$$aaltmetric:153873943
000264182 037__ $$aDZNE-2023-00962
000264182 041__ $$aEnglish
000264182 082__ $$a570
000264182 1001_ $$aYildiz, Berra$$b0
000264182 245__ $$aShank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.
000264182 260__ $$aLausanne$$bFrontiers Media$$c2023
000264182 3367_ $$2DRIVER$$aarticle
000264182 3367_ $$2DataCite$$aOutput Types/Journal article
000264182 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1696418970_23995
000264182 3367_ $$2BibTeX$$aARTICLE
000264182 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000264182 3367_ $$00$$2EndNote$$aJournal Article
000264182 520__ $$aPhelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle hypotonia. PMS is caused by a heterozygous deletion of the distal end of chromosome 22q13.3 or SHANK3 mutations. We analyzed striated muscles of newborn Shank3Δ11(-/-) animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult Shank3Δ11(-/-) mice, indicative of a Shank3-dependent and not compensatory mechanism for this structural alteration. We analyzed transcriptional differences by RNA-sequencing of muscle tissue of neonatal Shank3Δ11(-/-) mice and compared those to Shank3(+/+) controls. We found significant differences in gene expression of ion channels crucial for muscle contraction and for molecules involved in calcium ion regulation. In addition, calcium storage- [i.e., Calsequestrin (CSQ)], calcium secretion- and calcium-related signaling-proteins were found to be affected. By immunostainings and Western blot analyses we could confirm these findings both in Shank3Δ11(-/-) mice and PMS patient muscle tissue. Moreover, alterations could be induced in vitro by the selective downregulation of Shank3 in C2C12 myotubes. Our results emphasize that SHANK3 levels directly or indirectly regulate calcium homeostasis in a cell autonomous manner that might contribute to muscular hypotonia especially seen in the newborn.
000264182 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x0
000264182 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000264182 650_7 $$2Other$$aASD
000264182 650_7 $$2Other$$aRNA-sequencing
000264182 650_7 $$2Other$$aShank3
000264182 650_7 $$2Other$$aimmunohistochemistry
000264182 650_7 $$2Other$$amuscular hypotonia
000264182 650_7 $$2Other$$aneurodevelopmental disorders
000264182 650_7 $$2Other$$awestern blot
000264182 7001_ $$aSchiedt, Lisa$$b1
000264182 7001_ $$aMulaw, Medhanie$$b2
000264182 7001_ $$aBockmann, Jürgen$$b3
000264182 7001_ $$0P:(DE-2719)9001441$$aJesse, Sarah$$b4$$udzne
000264182 7001_ $$aLutz, Anne-Kathrin$$b5
000264182 7001_ $$0P:(DE-2719)2812855$$aBoeckers, Tobias M$$b6$$eLast author$$udzne
000264182 773__ $$0PERI:(DE-600)2737824-X$$a10.3389/fcell.2023.1243299$$gVol. 11, p. 1243299$$p1243299$$tFrontiers in cell and developmental biology$$v11$$x2296-634X$$y2023
000264182 8564_ $$uhttps://pub.dzne.de/record/264182/files/DZNE-2023-00962.pdf$$yOpenAccess
000264182 8564_ $$uhttps://pub.dzne.de/record/264182/files/DZNE-2023-00962_SUPP.zip$$yOpenAccess
000264182 8564_ $$uhttps://pub.dzne.de/record/264182/files/DZNE-2023-00962.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000264182 909CO $$ooai:pub.dzne.de:264182$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000264182 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9001441$$aExternal Institute$$b4$$kExtern
000264182 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812855$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b6$$kDZNE
000264182 9131_ $$0G:(DE-HGF)POF4-352$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vDisease Mechanisms$$x0
000264182 9141_ $$y2023
000264182 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2022-11-12
000264182 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2022-11-12
000264182 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000264182 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2021-05-13T10:29:32Z
000264182 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2021-05-13T10:29:32Z
000264182 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2022-11-12
000264182 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2022-11-12
000264182 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000264182 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2022-11-12
000264182 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2021-05-13T10:29:32Z
000264182 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bFRONT CELL DEV BIOL : 2022$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-26
000264182 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bFRONT CELL DEV BIOL : 2022$$d2023-10-26
000264182 9201_ $$0I:(DE-2719)1910002$$kAG Böckers$$lTranslational Protein Biochemistry$$x0
000264182 980__ $$ajournal
000264182 980__ $$aVDB
000264182 980__ $$aUNRESTRICTED
000264182 980__ $$aI:(DE-2719)1910002
000264182 9801_ $$aFullTexts