Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.

Anniina E HiltunenSalla M KangasSteffen OhlmeierIlkka PietiläJori HiltunenHeikki TanilaColin McKerlieSubashika GovindanHannu TuominenRiitta KaarteenahoMikko HallmanJohanna UusimaaReetta Hinttala

Published in: Molecular medicine (Cambridge, Mass.) (2020)

We describe here the first NHLRC2-deficient mouse model to overcome embryonic lethality, enabling further studies on predisposing and causative mechanisms behind FINCA disease. Our novel findings suggest that disrupted RNA metabolism may contribute to the neurodegeneration observed in FINCA patients.

Keyphrases

mouse model
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
spinal cord
brain injury
patient reported