Migraine‐Associated Mutation in the Na,K‐ATPase Leads to Disturbances in Cardiac Metabolism and Reduced Cardiac Function

Autor: Christian Staehr, Palle Duun Rohde, Nikolaj Thure Krarup, Steffen Ringgaard, Christoffer Laustsen, Jacob Johnsen, Rikke Nielsen, Hans Christian Beck, Jens Preben Morth, Karin Lykke‐Hartmann, Nichlas Riise Jespersen, Denis Abramochkin, Mette Nyegaard, Hans Erik Bøtker, Christian Aalkjaer, Vladimir Matchkov

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 7 (2022)

Background Mutations in ATP1A2 gene encoding the Na,K‐ATPase α2 isoform are associated with familial hemiplegic migraine type 2. Migraine with aura is a known risk factor for heart disease. The Na,K‐ATPase is important for cardiac function, but

Externí odkaz: https://doaj.org/article/82227bc414f6440f9965cdb15cfd02ed

The PNPLA3 rs738409 G-allele associates with reduced fasting serum triglyceride and serum cholesterol in Danes with impaired glucose regulation.

Autor: Nikolaj Thure Krarup, Niels Grarup, Karina Banasik, Martin Friedrichsen, Kristine Færch, Camilla Helene Sandholt, Torben Jørgensen, Pernille Poulsen, Daniel Rinse Witte, Allan Vaag, Thorkild Sørensen, Oluf Pedersen, Torben Hansen

Publikováno v: PLoS ONE, Vol 7, Iss 7, p e40376 (2012)

Non-alcoholic fatty liver disease (NAFLD) is a common condition, associated with hepatic insulin resistance and the metabolic syndrome including hyperglycaemia and dyslipidemia. We aimed at studying the potential impact of the NAFLD-associated PNPLA3

Externí odkaz: https://doaj.org/article/c71ced2fcd534ca79d9ee02e417ec595

Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene

Autor: Nikolaj Thure Krarup, Marie Hvidbjerg, Tomás Zaremba, Mette Sommerlund, Martin Kirk Christensen

Publikováno v: Krarup, N T, Hvidbjerg, M, Zaremba, T, Sommerlund, M & Christensen, M K 2023, ' Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene ', American Journal of Medical Genetics, Part A, vol. 191, no. 4, pp. 1059-1064 . https://doi.org/10.1002/ajmg.a.63095
Krarup, N T, Hvidbjerg, M, Zaremba, T, Sommerlund, M & Christensen, M K 2023, ' Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene ', American Journal of Medical Genetics. Part A, vol. 191, no. 4, pp. 1059-1064 . https://doi.org/10.1002/ajmg.a.63095

Cutis laxa (CL) is a rare, inherited or acquired connective tissue disorder characterized by abnormal elastic fibers causing loose and redundant skin and a prematurely aged appearance. The syndrome has been associated with hypertension, but cases wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2a6956da22fa4f2d26e3dd164829f2
https://pure.au.dk/portal/da/publications/autosomal-dominant-cutis-laxa-and-critical-stenosis-of-the-left-main-coronary-artery-in-a-21yearold-female-with-an-intronic-mutation-in-the-elastin-gene(f4aca951-9901-40bd-a559-aeae726952e5).html