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Circulation. Cardiovascular Genetics|April 8, 2014
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermisTorsten B Rasmussen, Peter H Nissen, Johan Palmfeldt, et al.
Human Mutation|February 6, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathyTorsten B Rasmussen, Johan Palmfeldt, Peter H Nissen, et al.
European Journal of Heart Failure|June 27, 2018
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelopeRasha A Al-Saaidi, Torsten B Rasmussen, Rune I D Birkler, et al.
Molecular Genetics and Metabolism|May 1, 2012
MCAD deficiency in DenmarkBrage Storstein Andresen, Allan Meldgaard Lund, David Michael Hougaard, et al.
Journal of Human Genetics|October 31, 2006
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potentialPeter Bross, Zhijie Li, Jakob Hansen, et al.
Frontiers in Molecular Biosciences|October 25, 2016
Effects of a Mutation in the <i>HSPE1</i> Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental DisorderAnne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, et al.
Nature Metabolism|October 16, 2025
Interaction of sortilin with apolipoprotein E3 enables neurons to use long-chain fatty acids as alternative metabolic fuelAnna K Greda, Jemila P Gomes, Vanessa Schmidt-Krueger, et al.
Diabetes, Obesity & Metabolism|May 13, 2018
Metformin targets brown adipose tissue in vivo and reduces oxygen consumption in vitroPeter Breining, Jonas B Jensen, Elias I Sundelin, et al.
Nature Communications|July 30, 2025
De novo pyrimidine biosynthesis inhibition synergizes with BCL-X<sub>L</sub> targeting in pancreatic cancerHuan Zhang, Naiara Santana-Codina, Qijia Yu, et al.
Oncogene|August 6, 2022
A genome-wide CRISPR-Cas9 knockout screen identifies novel PARP inhibitor resistance genes in prostate cancerMalene Blond Ipsen, Ea Marie Givskov Sørensen, Emil Aagaard Thomsen, et al.
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