المؤلفون: Koplev, Simon, Seldin, Marcus, Sukhavasi, Katyayani, Ermel, Raili, Pang, Shichao, Zeng, Lingyao, Bankier, Sean, Di Narzo, Antonio, Cheng, Haoxiang, Meda, Vamsidhar, Ma, Angela, Talukdar, Husain, Cohain, Ariella, Amadori, Letizia, Argmann, Carmen, Houten, Sander M, Franzén, Oscar, Mocci, Giuseppe, Meelu, Omar A, Ishikawa, Kiyotake, Whatling, Carl, Jain, Anamika, Jain, Rajeev Kumar, Gan, Li-Ming, Giannarelli, Chiara, Roussos, Panos, Hao, Ke, Schunkert, Heribert, Michoel, Tom, Ruusalepp, Arno, Schadt, Eric E, Kovacic, Jason C, Lusis, Aldon J, Björkegren, Johan LM

المصدر: Nature Cardiovascular Research. 1(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Heart Disease - Coronary Heart Disease, Human Genome, Heart Disease, Atherosclerosis, Cardiovascular, 2.1 Biological and endogenous factors, Coronary Artery Disease, Animals, Humans, Gene Regulatory Networks, Cardiometabolic Risk Factors, Female, Genetic Predisposition to Disease, Mice, Male, Middle Aged, Mice, Inbred C57BL, Disease Models, Animal, Databases, Genetic, Blood Glucose, Phenotype, Case-Control Studies, Adipose Tissue, Adipokines

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4bz3z98s
https://escholarship.org/content/qt4bz3z98s/qt4bz3z98s.pdf

المؤلفون: Babcock, Shannon J., Houten, Sander M., Gillingham, Melanie B.

المساهمون: National Eye Institute

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108351 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108351
https://api.elsevier.com/content/article/PII:S1096719224002361?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224002361?httpAccept=text/plain

المؤلفون: Leandro, João, Khamrui, Susmita, Wang, Hui, Suebsuwong, Chalada, Nemeria, Natalia S, Huynh, Khoi, Moustakim, Moses, Secor, Cody, Wang, May, Dodatko, Tetyana, Stauffer, Brandon, Wilson, Christopher G, Yu, Chunli, Arkin, Michelle R, Jordan, Frank, Sanchez, Roberto, DeVita, Robert J, Lazarus, Michael B, Houten, Sander M

المصدر: ACS Chemical Biology. 15(8)

مصطلحات موضوعية: Neurosciences, Orphan Drug, Rare Diseases, Genetics, Charcot-Marie-Tooth Disease, Aetiology, 2.1 Biological and endogenous factors, Circular Dichroism, Crystallography, X-Ray, Humans, Ketoglutarate Dehydrogenase Complex, Molecular Structure, Mutation, Missense, Thiamine Pyrophosphate, Chemical Sciences, Biological Sciences, Organic Chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5dj5p5mg

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: Ciapaite, Jolita, van Roermund, Carlo W T, Bosma, Marjolein, Gerrits, Johan, Houten, Sander M, IJlst, Lodewijk, Waterham, Hans R, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Jans, Judith J, Verhoeven-Duif, Nanda M

المساهمون: Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Genetica, Cancer

مصطلحات موضوعية: mitochondrial dysfunction, pyridox(am)ine 5′-phosphate oxidase (PNPO), pyridoxal 5′-phosphate homeostasis protein PLPHP (PROSC), transaminases, vitamin B metabolism, α-ketoglutarate, Molecular Biology, Biochemistry, Cell Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449610

الاتاحة: https://dspace.library.uu.nl/handle/1874/449610

المؤلفون: Ranea-Robles, Pablo, Houten, Sander M.

المصدر: Ranea-Robles , P & Houten , S M 2023 , ' The biochemistry and physiology of long-chain dicarboxylic acid metabolism ' , Biochemical Journal , vol. 480 , no. 9 , pp. 607-627 . https://doi.org/10.1042/BCJ20230041

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/the-biochemistry-and-physiology-of-longchain-dicarboxylic-acid-metabolism(48b6abd7-1ff6-4b71-8b1b-30b882dd94ef).html
https://doi.org/10.1042/BCJ20230041
https://curis.ku.dk/ws/files/399338311/The_biochemistry.pdf

المؤلفون: Webb, Bryn D, Nowinski, Sara M, Solmonson, Ashley, Ganesh, Jaya, Rodenburg, Richard J, Leandro, Joao, Evans, Anthony, Vu, Hieu S, Naidich, Thomas P, Gelb, Bruce D, DeBerardinis, Ralph J, Rutter, Jared, Houten, Sander M

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of General Medical Sciences, The Nora Eccles Treadwell Foundation, Howard Hughes Medical Institute, National Cancer Institute, The Once Upon a Time Foundation, National Heart, Lung, and Blood Institute

المصدر: eLife ; volume 12 ; ISSN 2050-084X

الاتاحة: http://dx.doi.org/10.7554/elife.68047
https://cdn.elifesciences.org/articles/68047/elife-68047-v1.pdf
https://cdn.elifesciences.org/articles/68047/elife-68047-v1.xml
https://elifesciences.org/articles/68047

المؤلفون: Yeganeh, Mehdi, Auray‐Blais, Christiane, Maranda, Bruno, Sabovic, Amanda, DeVita, Robert J., Lazarus, Michael B., Houten, Sander M.

المصدر: JIMD Reports ; volume 64, issue 6, page 440-445 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12399
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12399

المؤلفون: Savić, Radoslav, Yang, Jialiang, Koplev, Simon, An, Mahru C., Patel, Priyanka L., O’Brien, Robert N., Dubose, Brittany N., Dodatko, Tetyana, Rogatsky, Eduard, Sukhavasi, Katyayani, Ermel, Raili, Ruusalepp, Arno, Houten, Sander M., Kovacic, Jason C., Stewart, Andrew F., Yohn, Christopher B., Schadt, Eric E., Laberge, Remi-Martin, Björkegren, Johan L.M., Tu, Zhidong, Argmann, Carmen

المساهمون: Leona M. and Harry B. Helmsley Charitable Trust, Fondation Leducq, Vetenskapsrådet, National Institutes of Health, Henry Luce Foundation, American Heart Association

المصدر: Cell Reports ; volume 42, issue 11, page 113371 ; ISSN 2211-1247

الاتاحة: https://doi.org/10.1016/j.celrep.2023.113371
https://api.elsevier.com/content/article/PII:S2211124723013839?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2211124723013839?httpAccept=text/plain

المؤلفون: Ciapaite, Jolita, van Roermund, Carlo W.T., Bosma, Marjolein, Gerrits, Johan, Houten, Sander M., IJlst, Lodewijk, Waterham, Hans R., van Karnebeek, Clara D.M., Wanders, Ronald J.A., Zwartkruis, Fried J.T., Jans, Judith J., Verhoeven-Duif, Nanda M.

المصدر: Journal of Biological Chemistry ; volume 299, issue 9, page 105047 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1016/j.jbc.2023.105047
https://api.elsevier.com/content/article/PII:S0021925823020756?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925823020756?httpAccept=text/plain

المؤلفون: Wu, Ruoxi, Khamrui, Susmita, Dodatko, Tetyana, Leandro, João, Sabovic, Amanda, Violante, Sara, Cross, Justin R., Marsan, Eric, Kumar, Kunal, DeVita, Robert J., Lazarus, Michael B., Houten, Sander M.

المصدر: ACS Chemical Biology; 7/19/2024, Vol. 19 Issue 7, p1544-1553, 10p

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

المساهمون: Metabole ziekten patientenzorg, Child Health

مصطلحات موضوعية: Mouse model, Dietary restriction, Caloric restriction, Fatty acid oxidation, Cardiac function, Inborn error of metabolism, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/442635

الاتاحة: https://dspace.library.uu.nl/handle/1874/442635

المؤلفون: Cohain, Ariella T., Barrington, William T., Jordan, Daniel M., Beckmann, Noam D., Argmann, Carmen A., Houten, Sander M., Charney, Alexander W., Ermel, Raili, Sukhavasi, Katyayani, Franzen, Oscar, Koplev, Simon, Whatling, Carl, Belbin, Gillian M., Yang, Jialiang, Hao, Ke, Kenny, Eimear E., Tu, Zhidong, Zhu, Jun, Gan, Li-Ming, Do, Ron, Giannarelli, Chiara, Kovacic, Jason C., Ruusalepp, Arno, Lusis, Aldons J., Bjorkegren, Johan L. M., Schadt, Eric E.

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-020-20750-8
https://www.nature.com/articles/s41467-020-20750-8.pdf
https://www.nature.com/articles/s41467-020-20750-8

المؤلفون: Ranea-Robles, Pablo, Portman, Kensey, Bender, Aaron, Lee, Kyung, He, John Cijiang, Mulholland, David J., Argmann, Carmen, Houten, Sander M.

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Kidney360 ; volume 2, issue 9, page 1441-1454 ; ISSN 2641-7650

الاتاحة: http://dx.doi.org/10.34067/kid.0003772021
https://journals.lww.com/10.34067/KID.0003772021

المؤلفون: Belbin, Gillian M., Rutledge, Stephanie, Dodatko, Tetyana, Cullina, Sinead, Turchin, Michael C., Kohli, Sumita, Torre, Denis, Yee, Muh-Ching, Gignoux, Christopher R., Abul-Husn, Noura S., Houten, Sander M., Kenny, Eimear E.

المصدر: The American Journal of Human Genetics ; volume 108, issue 11, page 2099-2111 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.09.016
https://api.elsevier.com/content/article/PII:S0002929721003529?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003529?httpAccept=text/plain

المؤلفون: Koutnikova, Hana, Cock, Terrie-Anne, Watanabe, Mitsuhiro, Houten, Sander M., Champy, Marie-France, Dierich, Andrée, Auwerx, Johan

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov . 100(24), 14457-14462.

URL الوصول: https://www.jstor.org/stable/3148979

المؤلفون: Zhang, Hong, Uthman, Laween, Bakker, Diane, Sari, Sahinda, Chen, Sha, Hollmann, Markus W., Coronel, Ruben, Weber, Nina C., Houten, Sander M., van Weeghel, Michel, Zuurbier, Coert J.

المساهمون: European Association for the Study of Diabetes, China Scholarship Council

المصدر: Frontiers in Cardiovascular Medicine ; volume 7 ; ISSN 2297-055X

الاتاحة: http://dx.doi.org/10.3389/fcvm.2020.592233
https://www.frontiersin.org/articles/10.3389/fcvm.2020.592233/full

المؤلفون: Zhang, Hong, Xiao, Yang, Nederlof, Rianne, Bakker, Diane, Zhang, Pengbo, Girardin, Stephen E., Hollmann, Markus W., Weber, Nina C., Houten, Sander M., van Weeghel, Michel, Kibbey, Richard G., Zuurbier, Coert J.

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases, China Scholarship Council

المصدر: Frontiers in Immunology ; volume 11 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2020.591815
https://www.frontiersin.org/articles/10.3389/fimmu.2020.591815/full

المؤلفون: Houten, Sander M., Wanders, Ronald J.A., Ranea-Robles, Pablo

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1866, issue 5, page 165720 ; ISSN 0925-4439

الاتاحة: http://dx.doi.org/10.1016/j.bbadis.2020.165720
https://api.elsevier.com/content/article/PII:S092544392030065X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S092544392030065X?httpAccept=text/plain

المؤلفون: Williams, Evan G., Wu, Yibo, Jha, Pooja, Dubuis, Sébastien, Blattmann, Peter, Argmann, Carmen A., Houten, Sander M., Amariuta, Tiffany, Wolski, Witold, Zamboni, Nicola, Aebersold, Ruedi, Auwerx, Johan

المصدر: Science, 2016 Jun 01. 352(6291), 1292-1292.

URL الوصول: http://www.jstor.org/stable/24748090