Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive i...
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
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Author / Creator
Leblond, Claire S , Nava, Caroline , Polge, Anne , Gauthier, Julie , Huguet, Guillaume , Lumbroso, Serge , Giuliano, Fabienne , Stordeur, Coline , Depienne, Christel , Mouzat, Kevin , Pinto, Dalila , Howe, Jennifer , Lemière, Nathalie , Durand, Christelle M , Guibert, Jessica , Ey, Elodie , Toro, Roberto , Peyre, Hugo , Mathieu, Alexandre , Amsellem, Frédérique , Rastam, Maria , Gillberg, I Carina , Rappold, Gudrun A , Holt, Richard , Monaco, Anthony P , Maestrini, Elena , Galan, Pilar , Heron, Delphine , Jacquette, Aurélia , Afenjar, Alexandra , Rastetter, Agnès , Brice, Alexis , Devillard, Françoise , Assouline, Brigitte , Laffargue, Fanny , Lespinasse, James , Chiesa, Jean , Rivier, François , Bonneau, Dominique , Regnault, Beatrice , Zelenika, Diana , Delepine, Marc , Lathrop, Mark , Sanlaville, Damien , Schluth-Bolard, Caroline , Edery, Patrick , Perrin, Laurence , Tabet, Anne Claude , Schmeisser, Michael J , Boeckers, Tobias M , Coleman, Mary , Sato, Daisuke , Szatmari, Peter , Scherer, Stephen W , Rouleau, Guy A , Betancur, Catalina , Leboyer, Marion , Gillberg, Christopher , Delorme, Richard and Bourgeron, Thomas
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), bu...
Alternative Titles
Full title
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Authors, Artists and Contributors
Author / Creator
Nava, Caroline
Polge, Anne
Gauthier, Julie
Huguet, Guillaume
Lumbroso, Serge
Giuliano, Fabienne
Stordeur, Coline
Depienne, Christel
Mouzat, Kevin
Pinto, Dalila
Howe, Jennifer
Lemière, Nathalie
Durand, Christelle M
Guibert, Jessica
Ey, Elodie
Toro, Roberto
Peyre, Hugo
Mathieu, Alexandre
Amsellem, Frédérique
Rastam, Maria
Gillberg, I Carina
Rappold, Gudrun A
Holt, Richard
Monaco, Anthony P
Maestrini, Elena
Galan, Pilar
Heron, Delphine
Jacquette, Aurélia
Afenjar, Alexandra
Rastetter, Agnès
Brice, Alexis
Devillard, Françoise
Assouline, Brigitte
Laffargue, Fanny
Lespinasse, James
Chiesa, Jean
Rivier, François
Bonneau, Dominique
Regnault, Beatrice
Zelenika, Diana
Delepine, Marc
Lathrop, Mark
Sanlaville, Damien
Schluth-Bolard, Caroline
Edery, Patrick
Perrin, Laurence
Tabet, Anne Claude
Schmeisser, Michael J
Boeckers, Tobias M
Coleman, Mary
Sato, Daisuke
Szatmari, Peter
Scherer, Stephen W
Rouleau, Guy A
Betancur, Catalina
Leboyer, Marion
Gillberg, Christopher
Delorme, Richard
Bourgeron, Thomas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1685113408
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685113408
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1004580
