ArticleBrain : a journal of neurology2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Article in Brain : a journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed.
- Mitochondrial protein nmd regulates lipophagy and general autophagy during development.Autophagy · 2025Article
- Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.Clinical genetics · 2025Article
- Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease.Biochemical Society transactions · 2025Article
- Cryo-EM structure of AAA + ATPase thorase reveals novel helical filament formation.Computational and structural biotechnology journal · 2025Article
- ATAD1 Regulates Neuronal Development and Synapse Formation Through Tuning Mitochondrial Function.International journal of molecular sciences · 2024Article
- Mitohormesis.Cell metabolism · 2023Review
- Genetic Deletion of Thorase Causes Purkinje Cell Loss and Impaired Motor Coordination Behavior.Cells · 2023Article
- The AAA-ATPase ATAD1 and its partners promote degradation of desmin intermediate filaments in muscle.EMBO reports · 2022Article
- ATPase Thorase Deficiency Causes α-Synucleinopathy and Parkinson's Disease-like Behavior.Cells · 2022Article
- AAA + ATPase Thorase inhibits mTOR signaling through the disassembly of the mTOR complex 1.Nature communications · 2022Article
- Conserved structural elements specialize ATAD1 as a membrane protein extraction machine.eLife · 2022Article
- Global trends in research of glutamate in epilepsy during past two decades: A bibliometric analysis.Frontiers in neuroscience · 2022Article
- The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.EMBO reports · 2021Article
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.Brain sciences · 2021Article
- Increased levels of mitochondrial import factor Mia40 prevent the aggregation of polyQ proteins in the cytosol.The EMBO journal · 2021Article
- Reconstitution of Msp1 Extraction Activity with Fully Purified Components.Journal of visualized experiments : JoVE · 2021Article
- Update on the Classification and Pathophysiological Mechanisms of Pediatric Cardiorenal Syndromes.Children (Basel, Switzerland) · 2021Review
- Biallelic Variants inInternational journal of molecular sciences · 2021Article
- Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.Translational psychiatry · 2021Article
- Neuromuscular and Neuroendocrinological Features Associated WithFrontiers in neurology · 2021Article
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Abstract
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 complexes between the AMPA receptor-binding protein, GRIP1, and the AMPA receptor subunit GluA2. Using whole-exome sequencing, we identified a homozygous frameshift mutation in the last exon of ATAD1 [c.1070_1071delAT; p.(His357Argfs*15)] in three siblings who presented with a severe, lethal encephalopathy associated with stiffness and arthrogryposis. Biochemical and cellular analyses show that the C-terminal end of Thorase mutant gained a novel function that strongly impacts its oligomeric state, reduces stability or expression of a set of Golgi, peroxisomal and mitochondrial proteins and affects disassembly of GluA2 and Thorase oligomer complexes. Atad1-/- neurons expressing Thorase mutantHis357Argfs*15 display reduced amount of GluA2 at the cell surface suggesting that the Thorase mutant may inhibit the recycling back and/or reinsertion of AMPA receptors to the plasma membrane. Taken together, our molecular and functional analyses identify an activating ATAD1 mutation as a new cause of severe encephalopathy and congenital stiffness.
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