Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.

doi:10.1126/scitranslmed.aah4985

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.

Science translational medicine - 13 Dec 2017

Umanah George K E, Pignatelli Marco, Yin Xiling, Chen Rong, Crawford Joshua, Neifert Stewart, Scarffe Leslie, Behensky Adam A, Guiberson Noah, Chang Melissa, Ma Erica, Kim Jin Wan, Castro Cibele C, Mao Xiaobo, Chen Li, Andrabi Shaida A, Pletnikov Mikhail V, Pulver Ann E, Avramopoulos Dimitrios, Bonci Antonello, Valle David, Dawson Ted M, Dawson Valina L

Abstract excerpt

The AAA+ adenosine triphosphatase (ATPase) Thorase plays a critical role in controlling synaptic plasticity by regulating the expression of surface α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). Bidirectional sequencing of exons of ATAD1, the gene encoding Thorase, in a cohort of patients with schizophrenia and healthy controls revealed rare Thorase variants. These variants caused...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATPases Associated with Diverse Cellular Activities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Excitatory Postsynaptic Potentials

Share to Social Behavior

Share to Synaptic Transmission

Source

Open in PubMed Open full text

Identifiers

PMID: 29237760
DOI: 10.1126/scitranslmed.aah4985
PMCID: PMC6573025

Genes

ATAD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.PMID 29237760Read ↗

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.Semantic proximity Read ↗

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.Semantic proximity Read ↗

A pathogenic AMPA receptor gating mutation disrupts synapse-mitochondrion axis and stalls synapse maturationSemantic proximity Read ↗

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.Semantic proximity Read ↗

The role of transmembrane AMPA receptor regulatory proteins (TARPs) in neurotransmission and receptor trafficking (Review).Semantic proximity Read ↗

Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.Semantic proximity Read ↗

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.Semantic proximity Read ↗

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.Semantic proximity Read ↗

Stargazin interacts functionally with the AMPA receptor glutamate-binding module.Semantic proximity Read ↗

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.Semantic proximity Read ↗

An emerging role for TARPs in neuropsychiatric disorders.Semantic proximity Read ↗

Increased expression of ATase1/NAT8B or ATase2/NAT8 in the mouse results in an autistic-like phenotype with altered dendritic branching and spine formation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.