Rats with a Human Mutation of NFU1 Develop Pulmonary Hypertension.
Niihori M, Eccles CA, Kurdyukov S, Zemskova M, Varghese MV, Stepanova AA, Galkin A, Rafikov R, Rafikova O.
Niihori M, et al.
Am J Respir Cell Mol Biol. 2020 Feb;62(2):231-242. doi: 10.1165/rcmb.2019-0065OC.
Am J Respir Cell Mol Biol. 2020.
PMID: 31461310
Free PMC article.
Patients with autosomal-recessive inheritance of the NFU1 mutation G208C have reduced activity of the respiratory chain Complex II and decreased levels of lipoic-acid-dependent enzymes, and develop pulmonary arterial hypertension (PAH) in 70% of cases. ...Male and female h …
Patients with autosomal-recessive inheritance of the NFU1 mutation G208C have reduced activity of the respiratory chain Complex II an …