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

• Main Authors: Anniina E. Hiltunen (Author), Salla M. Kangas (Author), Steffen Ohlmeier (Author), Ilkka Pietilä (Author), Jori Hiltunen (Author), Heikki Tanila (Author), Colin McKerlie (Author), Subashika Govindan (Author), Hannu Tuominen (Author), Riitta Kaarteenaho (Author), Mikko Hallman (Author), Johanna Uusimaa (Author), Reetta Hinttala (Author)
• Format: Knjiga
• Izdano: BMC, 2020-12-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...