Article
Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3.
Autism research : official journal of the International Society for Autism Research - 1 Jul 2019
Hosie Suzanne, Ellis Melina, Swaminathan Mathusi, Ramalhosa Fatima, Seger Gracia O, Balasuriya Gayathri K, Gillberg Christopher, Råstam Maria, Churilov Leonid, McKeown Sonja J, Yalcinkaya Nalzi, Urvil Petri, Savidge Tor, Bell Carolyn A, Bodin Oonagh, Wood Jen, Franks Ashley E, Bornstein Joel C, Hill-Yardin Elisa L
Abstract excerpt
Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic...
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