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Article

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Brain : a journal of neurology - 1 Mar 2018

Piard Juliette, Umanah George K Essien, Harms Frederike L, Abalde-Atristain Leire, Amram Daniel, Chang Melissa, Chen Rong, Alawi Malik, Salpietro Vincenzo, Rees Mark I, Chung Seo-Kyung, Houlden Henry, Verloes Alain, Dawson Ted M, Dawson Valina L, Van Maldergem Lionel, Kutsche Kerstin

Abstract excerpt

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the internalization of excitatory, glutamatergic AMPA receptors by disassembling...

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Share to Adenosine Triphosphatases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29390050
DOI: 10.1093/brain/awx377
PMCID: PMC5837721

Genes

ATAD1
GRIP1

Variants

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.

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