Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse

Autor: Eugène F. Diekman, Michel van Weeghel, Mayte Suárez-Fariñas, Carmen Argmann, Pablo Ranea-Robles, Ronald J.A. Wanders, Gepke Visser, Ingeborg van der Made, Esther E. Creemers, Sander M. Houten

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100749- (2021)

Patients with a disorder of mitochondrial long-chain fatty acid β-oxidation (FAO) have reduced fasting tolerance and may present with hypoketotic hypoglycemia, hepatomegaly, (cardio)myopathy and rhabdomyolysis. Patients should avoid a catabolic stat

Externí odkaz: https://doaj.org/article/1995f62863d44c048523d3539d34e512

shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele

Autor: Lucía Cócera-Ortega, Ronald Wilders, Selina C. Kamps, Benedetta Fabrizi, Irit Huber, Ingeborg van der Made, Anouk van den Bout, Dylan K. de Vries, Lior Gepstein, Arie O. Verkerk, Yigal M. Pinto, Anke J. Tijsen

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 7, p 4053 (2022)

Long-QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1. Patients heterozygous for such a mutation co-assemble both mutant and wild-type KCNQ1-encoded subunits into tetrameric Kv7.1 potassium channels. Here, we investigated whether allele-spec

Externí odkaz: https://doaj.org/article/ff87fa57dcd14cd09ff42369d3f65dbf

The RNA-binding protein Rbm38 is dispensable during pressure overload-induced cardiac remodeling in mice.

Autor: Maarten M G van den Hoogenhof, Ingeborg van der Made, Abdelaziz Beqqali, Nina E de Groot, Amin Damanafshan, Ralph J van Oort, Yigal M Pinto, Esther E Creemers

Publikováno v: PLoS ONE, Vol 12, Iss 8, p e0184093 (2017)

The importance of tightly controlled alternative pre-mRNA splicing in the heart is emerging. The RNA binding protein Rbm24 has recently been identified as a pivotal cardiac splice factor, which governs sarcomerogenesis in the heart by controlling the

Externí odkaz: https://doaj.org/article/849c6d7da6ec4f1da3aa0ca187ca4e67

Cardiomyocyte-specific miRNA-30c over-expression causes dilated cardiomyopathy.

Autor: Wino J Wijnen, Ingeborg van der Made, Stephanie van den Oever, Monika Hiller, Bouke A de Boer, Daisy I Picavet, Iliana A Chatzispyrou, Riekelt H Houtkooper, Anke J Tijsen, Jaco Hagoort, Henk van Veen, Vincent Everts, Jan M Ruijter, Yigal M Pinto, Esther E Creemers

Publikováno v: PLoS ONE, Vol 9, Iss 5, p e96290 (2014)

MicroRNAs (miRNAs) regulate many aspects of cellular function and their deregulation has been implicated in heart disease. MiRNA-30c is differentially expressed in the heart during the progression towards heart failure and in vitro studies hint to it

Externí odkaz: https://doaj.org/article/39d74b6e26954e6f905a52655dac842b

The RNA-binding protein QKI governs a muscle-specific alternative splicing program that shapes the contractile function of cardiomyocytes

Autor: Pablo Montañés-Agudo, Simona Aufiero, Eva N Schepers, Ingeborg van der Made, Lucia Cócera-Ortega, Auriane C Ernault, Stéphane Richard, Diederik W D Kuster, Vincent M Christoffels, Yigal M Pinto, Esther E Creemers

Publikováno v: Cardiovascular research, 119(5), 1161-1174. Oxford University Press
Montañés-Agudo, P, Aufiero, S, Schepers, E N, van der Made, I, Cócera-Ortega, L, Ernault, A C, Richard, S, Kuster, D W D, Christoffels, V M, Pinto, Y M & Creemers, E E 2023, ' The RNA-binding protein QKI governs a muscle-specific alternative splicing program that shapes the contractile function of cardiomyocytes ', Cardiovascular Research, vol. 119, no. 5, pp. 1161-1174 . https://doi.org/10.1093/cvr/cvad007
Cardiovascular Research, 119(5), 1161-1174. Oxford University Press

Aims In the heart, splicing factors orchestrate the functional properties of cardiomyocytes by regulating the alternative splicing of multiple genes. Work in embryonic stem cells has shown that the splicing factor Quaking (QKI) regulates alternative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50ebc788e68dadde46220d5ca49892c
https://pure.amc.nl/en/publications/the-rnabinding-protein-qki-governs-a-musclespecific-alternative-splicing-program-that-shapes-the-contractile-function-of-cardiomyocytes(48df7777-6df4-415c-856b-d4c9b3858e67).html