Tuulia Ala-Nisula, Riikka Halmetoja, Henri Leinonen, Margareta Kurkela, Henna-Riikka Lipponen, Samuli Sakko, Mikko Karpale, Antti M Salo, Niina Sissala, Tapio Röning, Ghulam S Raza, Kari A Mäkelä, Jérôme Thevenot, Karl-Heinz Herzig, Raisa Serpi, Johanna Myllyharju, Heikki Tanila, Peppi Koivunen, Elitsa Y Dimova
Transmembrane prolyl 4-hydroxylase (P4H-TM) is an enigmatic enzyme whose cellular function and primary substrate remain to be identified. Its loss-of-function mutations cause a severe neurological HIDEA syndrome with hypotonia, intellectual disability, dysautonomia and hypoventilation. Previously, P4H-TM deficiency in mice was associated with reduced atherogenesis and lower serum triglyceride levels. Here, we characterized the glucose and lipid metabolism of P4h-tm-/- mice in physiological and tissue analyses...
February 24, 2024: Pflügers Archiv: European Journal of Physiology