Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function

Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits CaV1.2 (CACNA1C) and CaVβ2 (C...

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Veröffentlicht in:	PloS one 2014-04, Vol.9 (4), p.e95579-e95579
Hauptverfasser:	Breitenkamp, Alexandra F S, Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Analysis Autism Base Sequence Biology and Life Sciences Calcium Calcium channels Calcium channels (L-type) Calcium channels (voltage-gated) Calcium Channels, L-Type - chemistry Calcium Channels, L-Type - genetics Calcium homeostasis Care and treatment Child & adolescent psychiatry Child Development Disorders, Pervasive - genetics Child Development Disorders, Pervasive - physiopathology Coding Deactivation Deceleration Diagnosis Family Gene mutations Genes Genetics Genomes Genomics Health risks Heart HEK293 Cells Homeostasis Humans Inactivation Ion Channel Gating Localization Medicine and Health Sciences Mental disorders Missense mutation Molecular Sequence Data Mutation Neural coding Neurodevelopmental disorders Neurosciences Pathogenesis Pervasive developmental disorders Pharmacology Point Mutation - genetics Psychotherapy RNA Splicing - genetics Rodents Social behavior Studies Time dependence Time Factors
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