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Autism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons

Autism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1126_science_aaf2669

Autism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons

About this item

Full title

Autism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons

Journal title

Science (American Association for the Advancement of Science), 2016-05, Vol.352 (6286)

Language

English

Formats

More information

Scope and Contents

Contents

SHANK3 is a widely expressed scaffolding protein that is enriched in postsynaptic specializations. In mutant mice, SHANK3 mutations cause autism-like behavioral changes and exhibit alterations in synaptic transmission. Yi
et al.
produced human neurons lacking SHANK3 but not other genes that are also involved in the autism-like disease Phelan-...

Alternative Titles

Full title

Autism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_crossref_primary_10_1126_science_aaf2669

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1126_science_aaf2669

Other Identifiers

ISSN

0036-8075

E-ISSN

1095-9203

DOI

10.1126/science.aaf2669

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