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Research by Topic: Shank3
Podcast: An ode to rats as animal models for autism
Published February 12, 2018On this week’s podcast, a study led by Elizabeth Berg in the lab of Dr. Jill Silverman at UC Davis published in the journal Autism Research demonstrated SHANK3’s role in core social communication deficits in a rat model of autism. Rats exhibit both receptive and expressive communication. SHANK3 mutations are seen in those with Phelan-McDermid […]
Filed under: Animal Models, Autism, Autism Research, featured, Jill Silverman, Phelan-McDermid Syndrome, research, science, Shank3, social communication, UC Davis
SHANK3 Duplication Leads to Hyperactivity in Mice
Published December 17, 2013 in Simons Foundation Autism Research InstituteMice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published in Nature.The mice produce about 50 percent more SHANK3 protein than their genetically typical counterparts, the scientists found, much like people with an extra copy of the gene do. The mice also show signs of hyperactivity. The team observed on further testing that the SHANK3 mice show behaviors typically seen in people going through manic episodes. The mice are easier to startle, eat more, have disrupted sleeping patterns and show heightened sensitivity to amphetamine. The mice also have spontaneous seizures.
Filed under: Autism News, Autism Research, Autism Science, featured, Hyperactivity, Mice Study, Shank3
ASF Grantee Publishes Paper in Nature that Brings Insight to Study of Phelan-McDermid Syndrome and Autism
Published October 16, 2013 in NatureA new study brings important insights about the cellular and molecular mechanisms involved in the loss and gain of synaptic function in human neurons from patients with Phelan-McDermid syndrome and autism. It also provides encouragement that neurons derived from induced pluripotent stem cells of patients will be useful in understanding and developing treatments for neurodevelopmental and psychiatric disorders.
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12618.html
Filed under: Autism News, Autism Research, Autism Science, featured, Shank3
The Autism Science Foundation and the NIH Fund Study of Promising Treatment for Autism Subtypes
Published August 26, 2013 in NewswiseScientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received grants from the National Institutes of Health and the Autism Science Foundation to study Insulin-Like Growth Factor-1 (IGF-1), a promising treatment for subtypes of autism. Clinical Director at the Seaver Autism Center, Dr. Alex Kolevzon, says, “IGF-1 has the potential to be effective in treating Phelan-McDermid Syndrome and other types of autism spectrum disorder. We are very pleased that the NIH and the Autism Science Foundation have recognized this by providing us funding to continue our work in bringing this medication to our patients.
Filed under: Autism News, Autism Research, Autism Science, featured, Shank3, Treatment
Majority of Individuals with SHANK3 Gene Problems Have Both Autism and Severe Intellectual Disability
Published June 11, 2013 in Molecular AutismProspective study of 22q13 deletion syndrome and SHANK3 deficiency shows that the majority of individuals with a SHANK3 deficiency show both signs of autism and severe intellectual disability.
http://www.ncbi.nlm.nih.gov/pubmed/23758760
Filed under: Autism News, Autism Research, Autism Science, Epigenetics, featured, Genetics, Shank3
First Prospective Study on the Effect of Shank3 Deficiency on Phelan-McDermid Syndrome
Published June 11, 2013 in Molecular AutismASF Scientific Advisory Board Member, Joe Buxbaum, directed the first prospective study on the effects of Shank3 deficiency on a subtype of autism called 22q13 Deletion Syndrome, also known as Phelan-McDermid Syndrome.
http://www.molecularautism.com/content/pdf/2040-2392-4-18.pdf
Filed under: Autism News, Autism Research, Autism Science, featured, Genetics, Shank3
SFARI Gene
Published February 21, 2013 in SFARISFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.
https://gene.sfari.org/autdb/Welcome.do
Filed under: Animal Models, Autism Research, Autism Science, Cell Adhesion Molecule, Copy Number Variations, featured, Genetics, Genomics, Mice Study, Mutations, Shank2, Shank3, Synapse, Technology
SFARI Reviews Mouse Models Used in Autism Genetics Research
Published September 25, 2012 in Simons Foundation Autism Research InitiativeNew genetic variants that increase susceptibility to autism are emerging at a rapid pace from scans for copy number variants (CNVs) deletions or duplications of DNA segments and next-generation sequencing. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.
Filed under: Animal Models, Copy Number Variations, featured, Mice Study, Shank3
Progress in Identifying the Genetic Roots of Autism
Published September 25, 2012 in Wall Street JournalGenetic tests are beginning to shed light on the causes of some autism spectrum disorders.
http://online.wsj.com/article/SB10000872396390444813104578016280501020620.html
Filed under: featured, Fragile X, Genetics, Mutations, Shank3
Scientists Track Adult Regression in Autism-Related Syndrome
Published July 26, 2012 in Simons Foundation Autism Research InitiativeScientists track adult regression in Phelan-McDermid Syndrome, which is one of the autism-related syndromes with an identified genetic basis.
Filed under: Adults, featured, Genetics, Shank3
Protein Interactome Reveals Converging Molecular Pathways
Published June 8, 2011 in Science Translational MedicineA recent study sheds light on how a variety of different mutations in genes that seemingly have little in common can each result in the symptoms of autism. To answer this question, researchers developed a molecular map of protein networks or "interactome" to identify how proteins associated with ASD interact with hundreds of other proteins. […]
http://www.ncbi.nlm.nih.gov/pubmed/21653829
Filed under: Fragile X, Genetics, Protein, Shank3