SHANK proteins: roles at the synapse and in autism spectrum disorder.

Szczegóły
Abstrakt

Tytuł:: SHANK proteins: roles at the synapse and in autism spectrum disorder.
Autorzy:: Monteiro P; McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts 02139, USA.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts 02142, USA.; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, 4704-553 Braga, Portugal.; Life and Health Sciences Research Institute (ICVS)/3B's PT Government Associate Laboratory, University of Minho, Braga/Guimarães, 4710-057 Braga, Portugal.
Feng G; McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts 02139, USA.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts 02142, USA.
Źródło:: Nature reviews. Neuroscience [Nat Rev Neurosci] 2017 Mar; Vol. 18 (3), pp. 147-157. Date of Electronic Publication: 2017 Feb 09.
Typ publikacji:: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Język:: English
Imprint Name(s):: Original Publication: London, UK : Nature Pub. Group,
MeSH Terms:: Autism Spectrum Disorder/*metabolism
Child Development Disorders, Pervasive/*metabolism
Neurons/*metabolism
Synapses/*metabolism
Animals ; Autism Spectrum Disorder/genetics ; Child Development Disorders, Pervasive/genetics ; Humans ; Mutation/genetics ; Nerve Tissue Proteins/metabolism
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Grant Information:: R01 MH097104 United States MH NIMH NIH HHS
Substance Nomenclature:: 0 (Nerve Tissue Proteins)
Entry Date(s):: Date Created: 20170210 Date Completed: 20170525 Latest Revision: 20200306
Update Code:: 20240104
DOI:: 10.1038/nrn.2016.183
PMID:: 28179641
: Czasopismo naukowe

Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.

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