ArticleThe Journal of biological chemistry
ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.
Article in The Journal of biological chemistry. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Lipidomics and genomics in mental health: insights into major depressive disorder, bipolar disorder, schizophrenia, and obsessive-compulsive disorder.Lipids in health and disease · 2025Pooled it
- Lipid transport mechanisms in human ABCA family transporters: a structural perspective.Biochemical Society transactions · 2026Review
- From disease to syndrome pattern: a study on the differentiation of traditional Chinese medicine syndrome patterns in asthma using multi-omics characterization.Frontiers in immunology · 2026Article
- Unraveling novel mechanisms of ATP-Binding cassette (ABC) transporter in insulin Resistance-induced amyloidogenesis.Metabolic brain disease · 2025Review
- From Genetics to Function: the Role of ABCA12 in Autism Neurobiology.Journal of molecular neuroscience : MN · 2025Review
- Direct cytosolic delivery of siRNA via cell membrane fusion using cholesterol-enriched exosomes.Nature nanotechnology · 2024Article
- STED Imaging of Vesicular Endocytosis in the Synapse.Neuroscience bulletin · 2024Article
- ATP-binding cassette transporters as possible targets for the intervention of neurodegenerative diseases.Neural regeneration research · 2024Article
- Association ofMolecular syndromology · 2024Article
- Asthma exacerbations and eosinophilia in the UK Biobank: a genome-wide association study.ERJ open research · 2024Article
- Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.Biomedicines · 2023Article
- Common genetic variants contribute to heritability of age at onset of schizophrenia.Translational psychiatry · 2023Article
- Article
- Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.Translational psychiatry · 2022Article
- The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.Molecular neurodegeneration · 2022Review
- ATP-binding cassette transporter expression is widely dysregulated in frontotemporal dementia with TDP-43 inclusions.Frontiers in molecular neuroscience · 2022Article
- Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder.International journal of molecular sciences · 2021Article
- Identification of loci associated with pathological outcomes in Holstein cattle infected with Mycobacterium avium subsp. paratuberculosis using whole-genome sequence data.Scientific reports · 2021Article
- Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.Free neuropathology · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ATP-binding cassette subfamily A member 13 (ABCA13) is predicted to be the largest ABC protein, consisting of 5058 amino acids and a long N-terminal region. Mutations in the ABCA13 gene were reported to increase the susceptibility to schizophrenia, bipolar disorder, and major depression. However, little is known about the molecular functions of ABCA13 or how they associate with psychiatric disorders. Here, we examined the biochemical activity of ABCA13 using HEK293 cells transfected with mouse ABCA13. The expression of ABCA13 induced the internalization of cholesterol and gangliosides from the plasma membrane to intracellular vesicles. Cholesterol internalization by ABCA13 required the long N-terminal region and ATP hydrolysis. To examine the physiological roles of ABCA13, we generated Abca13 KO mice using CRISPR/Cas and found that these mice exhibited deficits of prepulse inhibition. Vesicular cholesterol accumulation and synaptic vesicle endocytosis were impaired in primary cultures of Abca13 KO cortical neurons. Furthermore, mutations in ABCA13 gene associated with psychiatric disorders disrupted the protein's subcellular localization and impaired cholesterol trafficking. These findings suggest that ABCA13 accelerates cholesterol internalization by endocytic retrograde transport in neurons and that loss of this function is associated with the pathophysiology of psychiatric disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.