Article

A humanized yeast model for studying TRAPP complex mutations; proof-of-concept using variants from an individual with a <i>TRAPPC1</i> -associated neurodevelopmental syndrome

2024-08-06

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 th...

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Literature Corpus work: c90eb195-c478-5c90-96cd-2616ac5d6561
DOI: 10.1101/2024.08.04.605925

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