{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11"],"submitter":["Yildiz B"],"pubmed_abstract":["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 <i>SHANK3</i> mutations. We analyzed striated muscles of newborn <i>Shank3Δ11(-/-)</i> animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult <i>Shank3Δ11(-/-)</i> 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 <i>Shank3Δ11(-/-)</i> mice and compared those to <"],"journal":["Frontiers in cell and developmental biology"],"pagination":["1243299"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10511643"],"repository":["biostudies-literature"],"pubmed_title":["Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue."],"pmcid":["PMC10511643"],"pubmed_authors":["Lutz AK","Mulaw M","Boeckers TM","Bockmann J","Schiedt L","Jesse S","Yildiz B"],"additional_accession":[]},"is_claimable":false,"name":"Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.","description":"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 <i>SHANK3</i> mutations. We analyzed striated muscles of newborn <i>Shank3Δ11(-/-)</i> animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult <i>Shank3Δ11(-/-)</i> 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 <i>Shank3Δ11(-/-)</i> mice and compared those to <","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-06-25T03:04:25.198Z","creation":"2025-04-06T01:23:44.53Z"},"accession":"S-EPMC10511643","cross_references":{"pubmed":["37745298"],"doi":["10.3389/fcell.2023.1243299"]}}