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Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant

18 Feb 2025

Abstract excerpt

Adaptor protein (AP) complexes play key roles in escorting transmembrane proteins to various intracellular destinations, including the trans-Golgi compartment, secretory vesicles, and the plasma membrane. The AP-1 complex is heterotetrametric, comprised of four individual subunits: β1, γ1, σ1, and μ1, and encoded by separate genes that interact selectively with distinct cargo proteins. When AP-1 complex assembly...

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Cardiovascular Conditions and Treatments
Cell Adhesion Molecules Research
RNA regulation and disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40101690
DOI: 10.1016/j.ymgme.2025.109056

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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