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

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

Abstract Background FINCA disease is a pediatric cerebropulmonary disease caused by variants in the NHL repeat-containing 2 (NHLRC2) gene. Neurological symptoms are among the first manifestations of FINCA disease, but the consequences of NHLRC2 deficiency in the central nervous system are currently...

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Bibliographic Details
Main Authors: Anniina E. Hiltunen, Salla M. Kangas, Steffen Ohlmeier, Ilkka Pietilä, Jori Hiltunen, Heikki Tanila, Colin McKerlie, Subashika Govindan, Hannu Tuominen, Riitta Kaarteenaho, Mikko Hallman, Johanna Uusimaa, Reetta Hinttala
Format: Article
Language:English
Published: BMC 2020-12-01
Series:Molecular Medicine
Subjects:
FINCA
NHLRC2
hnRNP C1/C2
Crispr/Cas9
Neuronal precursor cell
2D-DIGE
Online Access:https://doi.org/10.1186/s10020-020-00245-4

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