Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Durand, Christelle M ; Betancur, Catalina ; Boeckers, Tobias M ; Bockmann, Juergen ; Chaste, Pauline ; Fauchereau, Fabien ; Nygren, Gudrun ; Råstam, Maria LU
; Gillberg, I Carina
and Anckarsäter, Henrik
LU
, et al.
(2006)
In Nature Genetics
39(1).
p.25-27
- Abstract
- SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1139188
- author
- Durand, Christelle M
; Betancur, Catalina
; Boeckers, Tobias M
; Bockmann, Juergen
; Chaste, Pauline
; Fauchereau, Fabien
; Nygren, Gudrun
; Råstam, Maria
LU
; Gillberg, I Carina
and Anckarsäter, Henrik
LU
, et al. (More)
- Durand, Christelle M
; Betancur, Catalina
; Boeckers, Tobias M
; Bockmann, Juergen
; Chaste, Pauline
; Fauchereau, Fabien
; Nygren, Gudrun
; Råstam, Maria
LU
; Gillberg, I Carina
; Anckarsäter, Henrik
LU
; Sponheim, Eili
; Goubran-Botros, Hany
and Delorme, Richard
(Less)
- organization
- publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 39
- issue
- 1
- pages
- 25 - 27
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:17173049
- scopus:33845889998
- pmid:17173049
- ISSN
- 1546-1718
- DOI
- 10.1038/ng1933
- language
- English
- LU publication?
- yes
- id
- 03b442fd-5772-444c-80dd-3afe01c8ae9d (old id 1139188)
- alternative location
- http://www.nature.com/ng/journal/v39/n1/full/ng1933.html
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082049/
- http://www.ncbi.nlm.nih.gov/pubmed/17173049
- date added to LUP
- 2016-04-04 09:08:25
- date last changed
- 2022-04-23 18:53:01
@article{03b442fd-5772-444c-80dd-3afe01c8ae9d,
abstract = {{SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.}},
author = {{Durand, Christelle M and Betancur, Catalina and Boeckers, Tobias M and Bockmann, Juergen and Chaste, Pauline and Fauchereau, Fabien and Nygren, Gudrun and Råstam, Maria and Gillberg, I Carina and Anckarsäter, Henrik and Sponheim, Eili and Goubran-Botros, Hany and Delorme, Richard}},
issn = {{1546-1718}},
language = {{eng}},
number = {{1}},
pages = {{25--27}},
publisher = {{Nature Publishing Group}},
series = {{Nature Genetics}},
title = {{Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders}},
url = {{http://dx.doi.org/10.1038/ng1933}},
doi = {{10.1038/ng1933}},
volume = {{39}},
year = {{2006}},
}