Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Altered surface expression of P2Y11 receptor with narcolepsy-associated mutations

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Effect of TRPA1 activator allyl isothiocyanate (AITC) on rat dural and pial arteries

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Novel variant of CYP2D6*6 is undetected by a commonly used genotyping procedure

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. CD8+ T cells from patients with narcolepsy and healthy controls recognize hypocretin neuron-specific antigens

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. In vivo clonal expansion and phenotypes of hypocretin-specific CD4+ T cells in narcolepsy patients and controls

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. MEK/ERK/1/2 sensitive vascular changes coincide with retinal functional deficit, following transient ophthalmic artery occlusion

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. The preleukemic TCF3-PBX1 gene fusion can be generated in utero and is present in ≈0.6% of healthy newborns

    Publikation: Bidrag til tidsskriftLetterForskningpeer review

  5. Type 1 narcolepsy is not present in 29 HPV-vaccinated individuals with subjective sleep complaints

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: Narcolepsy with cataplexy is a neurological sleep disorder, which is believed to arise from the autoimmune destruction of hypocretin-producing neurons. The purinergic receptor P2Y11 is associated with narcolepsy in genome-wide association studies, and P2RY11 sequencing has further revealed eight rare missense mutations associated with the disease. Some of these mutations alter the signaling properties of P2Y11, but for some, no functional effects have been discovered so far.

METHODS: This study examined the surface expression of the eight narcolepsy-associated P2Y11 mutations using an in vitro surface expression assay.

RESULTS: The assay showed excellent discrimination between cells transfected with tagged wild type and the untagged P2Y11 receptor, proving complete specificity towards the 3HA-N-tag used for the assay. Our results show a decreased surface expression of the R307W P2Y11 mutant and a surface expression similar to wild type for the other seven mutants.

CONCLUSION: Based on the present findings, alteration in surface expression is not likely to play a role in how P2Y11 influences narcolepsy pathogenesis. This is important because intact surface expression increases the usefulness of P2Y11 as a future drug target.

OriginalsprogEngelsk
TidsskriftPharmacological Reports
Vol/bind71
Udgave nummer5
Sider (fra-til)926-928
Antal sider3
ISSN1734-1140
DOI
StatusUdgivet - okt. 2019

Bibliografisk note

Copyright © 2019 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier B.V. All rights reserved.

ID: 58297474