Article
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
Molecular medicine (Cambridge, Mass.) - 9 Dec 2020
Hiltunen Anniina E, Kangas Salla M, Ohlmeier Steffen, Pietilä Ilkka, Hiltunen Jori, Tanila Heikki, McKerlie Colin, Govindan Subashika, Tuominen Hannu, Kaarteenaho Riitta, Hallman Mikko, Uusimaa Johanna, Hinttala Reetta
Abstract excerpt
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 unexplored. METHODS: The orthologous mouse gene is essential for development, and its complete loss leads to early embryonic...
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