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Article

TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.

International journal of molecular sciences - 12 Dec 2024

Hall Riley, Sawant Vallari, Gu Jinchao, Sikora Tim, Rollo Ben, Velasco Silvia, Kim Jinkuk, Segev Nava, Christodoulou John, Van Bergen Nicole J

Abstract excerpt

The TRAPP (TRAnsport Protein Particle) protein complex is a multi-subunit complex involved in vesicular transport between intracellular compartments. The TRAPP complex plays an important role in endoplasmic reticulum-to-Golgi and Golgi-to-plasma membrane transport, as well as autophagy. TRAPP complexes comprise a core complex, TRAPPI, and the association of peripheral protein subunits to make two complexes, known...

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PMID: 39769094
DOI: 10.3390/ijms252413329

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TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.PMID 39769094Read ↗

TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.Semantic proximity Read ↗

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A Case Report and a Review of TRAPPC4-Related TRAPPopathy.Semantic proximity Read ↗

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

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

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.Semantic proximity Read ↗

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Semantic proximity Read ↗

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The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.Semantic proximity Read ↗

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