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Article

Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment.

Acta neuropathologica communications - 12 Jun 2013

Kuijpers Marijn, van Dis Vera, Haasdijk Elize D, Harterink Martin, Vocking Karin, Post Jan A, Scheper Wiep, Hoogenraad Casper C, Jaarsma Dick

Abstract excerpt

BACKGROUND: Protein aggregation and the formation of intracellular inclusions are a central feature of many neurodegenerative disorders, but precise knowledge about their pathogenic role is lacking in most instances. Here we have characterized inclusions formed in transgenic mice carrying the P56S mutant form of VAPB that causes various motor neuron syndromes including ALS8. RESULTS: Inclusions in motor neurons...

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Identifiers

PMID: 24252306
DOI: 10.1186/2051-5960-1-24
PMCID: PMC3893532

Genes

VAPB
VCP

Variants

Provenance

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Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment.PMID 24252306Read ↗

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