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Article

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.

Science (New York, N.Y.) - 6 May 2016

Yi Fei, Danko Tamas, Botelho Salome Calado, Patzke Christopher, Pak ChangHui, Wernig Marius, Südhof Thomas C

Abstract excerpt

Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome. SHANK3 is a ubiquitously expressed scaffolding protein that is enriched in postsynaptic excitatory synapses. Here, we used engineered conditional mutations in human neurons and found that heterozygous and homozygous SHANK3 mutations severely and specifically impaired hyperpolarization-activated cation (Ih) channels....

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Identifiers

PMID: 26966193
DOI: 10.1126/science.aaf2669
PMCID: PMC4901875

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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