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Article

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Brain : a journal of neurology - 29 Nov 2021

Schneeberger Pauline E, Nampoothiri Sheela, Holling Tess, Yesodharan Dhanya, Alawi Malik, Knisely A S, Müller Thomas, Plecko Barbara, Janecke Andreas R, Kutsche Kerstin

Abstract excerpt

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the three subunits VPS51, VPS52 and VPS53, while VPS50 is unique to EARP and VPS54 to GARP. Retrograde transport of endosomal cargos to the trans-Golgi network is mediated by GARP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34037727
DOI: 10.1093/brain/awab206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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