A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.

Abner Gonzalez Hong Joo Kim Brian D FreibaumHo Yee Joyce FungChad A Brautigam J Paul Taylor Yuh Min Chook

Published in: bioRxiv : the preprint server for biology (2023)

-related X-linked neurodevelopmental disorder aberrantly accumulate in the cytoplasm. A structure of Karyopherin-β2•HNRNPH2 explains nuclear import defects of the variants, reveals a new NLS epitope that suggests mechanistic changes in pathological variants of Karyopherin-β2 paralog Transportin-2.

Keyphrases

copy number
monoclonal antibody
congenital heart disease
binding protein
dna methylation