ArticleAmerican journal of human genetics2019
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 33 citations in OpenAlex.
- Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.Journal of human genetics · 2026Review
- IDEDNIK syndrome: a newly recognized rare genetic disorder caused byFrontiers in neurology · 2025Review
- Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.Journal of molecular medicine (Berlin, Germany) · 2024Article
- An AAGAB-to-CCDC32 handover mechanism controls the assembly of the AP2 adaptor complex.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Deficiency of AP1 ComplexInternational journal of molecular sciences · 2023Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- The adaptor protein chaperone AAGAB stabilizes AP-4 complex subunits.Molecular biology of the cell · 2022Article
- New directions for the clathrin adaptor AP-1 in cell biology and human disease.Current opinion in cell biology · 2022Review
- AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors.Journal of cell science · 2021Article
- De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.American journal of human genetics · 2021Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Genetics of Inherited Ichthyoses and Related Diseases.Acta dermato-venereologica · 2020Review
- Expanding the Clinical Spectrum of KIDAR Syndrome: A Case of Multisystemic Involvement in a Palestinian Child with AP1B1 Deficiency.Sage open pediatricsArticle
- Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.Molecular genetics and metabolismReview
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
Abstract
We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 β subunit is lost, and the γ subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contain an abundance of abnormal vesicles and show hyperproliferation, abnormal epidermal differentiation, and derangement of intercellular junction proteins. Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype, conclusively establishing that loss of AP1B1 function causes this disorder.
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