BDNF c.253_254delinsGC ;(p.K85A)

Variant ID: 11-27679858-TT-GC

NM_001709.4(BDNF):c.253_254delinsGC;(p.K85A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice.

Nature Communications
Courchet, Virginie V; Roberts, Amanda J AJ; Meyer-Dilhet, Géraldine G; Del Carmine, Peggy P; Lewis, Tommy L TL; Polleux, Franck F; Courchet, Julien J
Publication Date: 2018-10-16

Variant appearance in text: BDNF: K85A
PubMed Link: 30327473
Variant Present in the following documents:
  • 41467_2018_Article_6584.pdf
View BVdb publication page



Amyloid-β oligomers induce tau-independent disruption of BDNF axonal transport via calcineurin activation in cultured hippocampal neurons.

Molecular Biology Of The Cell
Ramser, Elisa M EM; Gan, Kathlyn J KJ; Decker, Helena H; Fan, Emily Y EY; Suzuki, Matthew M MM; Ferreira, Sergio T ST; Silverman, Michael A MA
Publication Date: 2013-08

Variant appearance in text: BDNF: K85A
PubMed Link: 23783030
Variant Present in the following documents:
  • Main text
  • 2494.pdf
View BVdb publication page



Amyloid-beta peptide oligomers disrupt axonal transport through an NMDA receptor-dependent mechanism that is mediated by glycogen synthase kinase 3beta in primary cultured hippocampal neurons.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Decker, Helena H; Lo, Karen Y KY; Unger, Sandra M SM; Ferreira, Sergio T ST; Silverman, Michael A MA
Publication Date: 2010-07-07

Variant appearance in text: BDNF: K85A
PubMed Link: 20610750
Variant Present in the following documents:
  • Main text
View BVdb publication page