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Article

Biochemical analysis of a TrkB receptor mutation that causes a developmental epileptic encephalopathy.

The Journal of biological chemistry - 1 Mar 2026

Huang Yang Zhong, McNamara Cormic, McNamara James O

Abstract excerpt

TrkB, a receptor tyrosine kinase encoded by gene NTRK2, is essential for diverse biological processes in both the developing and mature mammalian nervous systems. Whole exome sequencing of children with developmental epileptic encephalopathy revealed an intriguing syndrome caused by a rare de novo recurrent variant of TrkB, namely Y434C. Investigating the biochemical properties of the Y434C mutant protein is an...

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Identifiers

PMID: 41525844
DOI: 10.1016/j.jbc.2026.111152
PMCID: PMC12876826

Genes

NTRK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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