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A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

Cells - 30 Aug 2024

Zykaj Erta, Abboud Chelsea, Asadi Paria, Warsame Simane, Almousa Hashem, Milev Miroslav P, Greco Brittany M, López-Sánchez Marcos, Bratkovic Drago, Kachroo Aashiq H, Pérez-Jurado Luis Alberto, Sacher Michael

Abstract excerpt

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regulators that are also involved in autophagy. Pathogenic genetic variants in specific TRAPP subunits are linked to neurological disorders, muscular dystrophies, and skeletal dysplasias. Characterizing these variants and...

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PMID: 39273027
DOI: 10.3390/cells13171457
PMCID: PMC11394476

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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