Bioinformatics analyses show dysregulation of calcium-related genes in Angelman syndrome mouse model.

Neurobiology of Disease
Julia Panov, Hanoch Kaphzan

Abstract

Angelman syndrome (AS) is a genetic neurodevelopmental disorder caused by the loss of function of the UBE3A protein in the brain. In a previous study, we showed that activity-dependent calcium dynamics in hippocampal CA1 pyramidal neurons of AS mice is compromised, and its normalization rescues the hippocampal-dependent deficits. Therefore, we expected that the expression profiles of calcium-related genes would be altered in AS mice hippocampi. We analyzed mRNA sequencing data from AS model mice and WT controls in light of the newly published CaGeDB database of calcium-related genes. We validated our results in two independent RNA sequencing datasets from two additional different AS models: first one, a human neuroblastoma cell line where UBE3A expression was knocked down by siRNA, and the second, an iPSC-derived neurons from AS patient and healthy donor control. We found signatures of dysregulated calcium-related genes in AS mouse model hippocampus. Additionally, we show that these calcium-related genes function as signatures for AS in other human cellular models of AS, thus strengthening our findings. Our findings suggest the downstream implications and significance of the compromised calcium signaling in Angelman syndrome. M...Continue Reading

References

Apr 1, 1995·Journal of Intellectual Disability Research : JIDR·J A SummersL Sandler
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Mar 16, 2002·Neurobiology of Disease·Kiyonori MiuraJoseph Wagstaff
Nov 4, 2004·Clinical Genetics·S U PetersC A Bacino
Jan 26, 2005·Brain & Development·Charles A Williams
Jul 30, 2005·Molecular Endocrinology·Sung Yun JungJun Qin
Feb 14, 2006·American Journal of Medical Genetics. Part a·Charles A WilliamsJoseph Wagstaff
Dec 13, 2006·The European Journal of Neuroscience·Fabrizio GardoniMonica Di Luca
Sep 27, 2008·Neuron·Gary A WaymanThomas R Soderling
Dec 2, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Hanoch KaphzanEric Klann
Dec 23, 2011·Nature·Hsien-Sung HuangBenjamin D Philpot
May 31, 2012·Molecular and Cellular Biology·Gustavo Martínez-NoëlPeter M Howley
Oct 30, 2012·Bioinformatics·Alexander DobinThomas R Gingeras
Dec 4, 2012·Nucleic Acids Research·Andrea FranceschiniLars J Jensen
Apr 4, 2014·Bioinformatics·Anthony M BolgerBjoern Usadel
Dec 18, 2014·Genome Biology·Michael I LoveSimon Anders
May 18, 2016·Nucleic Acids Research·Sasha BabickiDavid S Wishart
Mar 18, 2017·BMC Genomics·Joseph L BundyRichard S Nowakowski
Apr 22, 2017·Bioinformatics·Matthias HörtenhuberPer Uhlén
Sep 20, 2017·Epigenetics : Official Journal of the DNA Methylation Society·S Jesse LopezJanine M LaSalle
Jan 23, 2018·Frontiers in Cellular Neuroscience·Tiantian WangJ Gerard G Borst
Feb 13, 2018·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Michael S SidorovBenjamin D Philpot
Aug 8, 2018·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Diana C RotaruYpe Elgersma
Aug 21, 2018·Frontiers in Genetics·Stephane Wenric, Ruhollah Shemirani
Oct 24, 2018·The Journal of Clinical Investigation·Bin GuBenjamin D Philpot

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Related Concepts

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Related Papers

Advances in Neurology
S OrreniusP Nicotera
Surgical Forum
F R Heckler, J B McCraw
Terapevticheskiĭ arkhiv
V L DobinT A Kokunova
Biochemical and Biophysical Research Communications
R H Haschke, J M Friedhoff
© 2021 Meta ULC. All rights reserved