FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2008927706> ?p ?o ?g. }

• W2008927706 endingPage "33883" @default.
• W2008927706 startingPage "33873" @default.
• W2008927706 abstract "Mutations in the CACNA1A gene, which encodes the pore-forming α1A subunit of the CaV2.1 voltage-gated calcium channel, cause a number of human neurologic diseases including familial hemiplegic migraine. We have analyzed the functional impact of the E1015K amino acid substitution located in the synprint domain of the α1A subunit. This variant was identified in two families with hemiplegic migraine and in one patient with migraine with aura. The wild type (WT) and the E1015K forms of the GFP-tagged α1A subunit were expressed in cultured hippocampal neurons and HEK cells to understand the role of the variant in the transport activity and physiology of CaV2.1. The E1015K variant does not alter CaV2.1 protein expression, and its transport to the cell surface and synaptic terminals is similar to that observed for WT channels. Electrophysiological data demonstrated that E1015K channels have increased current density and significantly altered inactivation properties compared with WT. Furthermore, the SNARE proteins syntaxin 1A and SNAP-25 were unable to modulate voltage-dependent inactivation of E1015K channels. Overall, our findings describe a genetic variant in the synprint site of the CaV2.1 channel which is characterized by a gain-of-function and associated with both hemiplegic migraine and migraine with aura in patients." @default.
• W2008927706 created "2016-06-24" @default.
• W2008927706 creator A5013442527 @default.
• W2008927706 creator A5014020494 @default.
• W2008927706 creator A5020024187 @default.
• W2008927706 creator A5025222461 @default.
• W2008927706 creator A5053377255 @default.
• W2008927706 creator A5066674424 @default.
• W2008927706 creator A5079617686 @default.
• W2008927706 creator A5080993076 @default.
• W2008927706 creator A5089224806 @default.
• W2008927706 date "2013-11-01" @default.
• W2008927706 modified "2023-09-28" @default.
• W2008927706 title "The E1015K Variant in the Synprint Region of the CaV2.1 Channel Alters Channel Function and Is Associated with Different Migraine Phenotypes" @default.
• W2008927706 cites W1554674249 @default.
• W2008927706 cites W1601354097 @default.
• W2008927706 cites W1612916675 @default.
• W2008927706 cites W1859463348 @default.
• W2008927706 cites W1966049079 @default.
• W2008927706 cites W1976817332 @default.
• W2008927706 cites W1980852615 @default.
• W2008927706 cites W1995839968 @default.
• W2008927706 cites W2000948750 @default.
• W2008927706 cites W2004077897 @default.
• W2008927706 cites W2010770575 @default.
• W2008927706 cites W2025197615 @default.
• W2008927706 cites W2025538209 @default.
• W2008927706 cites W2030034627 @default.
• W2008927706 cites W2040271533 @default.
• W2008927706 cites W2040778655 @default.
• W2008927706 cites W2042048113 @default.
• W2008927706 cites W2046122045 @default.
• W2008927706 cites W2046515495 @default.
• W2008927706 cites W2054605659 @default.
• W2008927706 cites W2059818242 @default.
• W2008927706 cites W2064551580 @default.
• W2008927706 cites W2068785519 @default.
• W2008927706 cites W2070566940 @default.
• W2008927706 cites W2072473300 @default.
• W2008927706 cites W2082547139 @default.
• W2008927706 cites W2089424629 @default.
• W2008927706 cites W2094573310 @default.
• W2008927706 cites W2095352259 @default.
• W2008927706 cites W2103565027 @default.
• W2008927706 cites W2107894529 @default.
• W2008927706 cites W2113074623 @default.
• W2008927706 cites W2122708962 @default.
• W2008927706 cites W2122838931 @default.
• W2008927706 cites W2132752562 @default.
• W2008927706 cites W2143582680 @default.
• W2008927706 cites W2153117162 @default.
• W2008927706 cites W2160339294 @default.
• W2008927706 cites W2410301734 @default.
• W2008927706 cites W4298360357 @default.
• W2008927706 doi "https://doi.org/10.1074/jbc.m113.497701" @default.
• W2008927706 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3837129" @default.
• W2008927706 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24108129" @default.
• W2008927706 hasPublicationYear "2013" @default.
• W2008927706 type Work @default.
• W2008927706 sameAs 2008927706 @default.
• W2008927706 citedByCount "7" @default.
• W2008927706 countsByYear W20089277062016 @default.
• W2008927706 countsByYear W20089277062017 @default.
• W2008927706 countsByYear W20089277062018 @default.
• W2008927706 countsByYear W20089277062021 @default.
• W2008927706 countsByYear W20089277062022 @default.
• W2008927706 crossrefType "journal-article" @default.
• W2008927706 hasAuthorship W2008927706A5013442527 @default.
• W2008927706 hasAuthorship W2008927706A5014020494 @default.
• W2008927706 hasAuthorship W2008927706A5020024187 @default.
• W2008927706 hasAuthorship W2008927706A5025222461 @default.
• W2008927706 hasAuthorship W2008927706A5053377255 @default.
• W2008927706 hasAuthorship W2008927706A5066674424 @default.
• W2008927706 hasAuthorship W2008927706A5079617686 @default.
• W2008927706 hasAuthorship W2008927706A5080993076 @default.
• W2008927706 hasAuthorship W2008927706A5089224806 @default.
• W2008927706 hasBestOaLocation W20089277061 @default.
• W2008927706 hasConcept C104292427 @default.
• W2008927706 hasConcept C104317684 @default.
• W2008927706 hasConcept C105951970 @default.
• W2008927706 hasConcept C122356138 @default.
• W2008927706 hasConcept C126322002 @default.
• W2008927706 hasConcept C127716648 @default.
• W2008927706 hasConcept C169760540 @default.
• W2008927706 hasConcept C170493617 @default.
• W2008927706 hasConcept C174510640 @default.
• W2008927706 hasConcept C185263204 @default.
• W2008927706 hasConcept C18699975 @default.
• W2008927706 hasConcept C2776497919 @default.
• W2008927706 hasConcept C2777350023 @default.
• W2008927706 hasConcept C2778042195 @default.
• W2008927706 hasConcept C2778541695 @default.
• W2008927706 hasConcept C30979828 @default.
• W2008927706 hasConcept C37088560 @default.
• W2008927706 hasConcept C50254741 @default.
• W2008927706 hasConcept C519063684 @default.
• W2008927706 hasConcept C54355233 @default.
• W2008927706 hasConcept C71924100 @default.

• next