Identification of human D lactate dehydrogenase deficiency

Autor: Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)

D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss

Externí odkaz: https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50

Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study.

Autor: Johanna Assies, François Pouwer, Anja Lok, Roel J T Mocking, Claudi L H Bockting, Ieke Visser, Nico G G M Abeling, Marinus Duran, Aart H Schene

Publikováno v: PLoS ONE, Vol 5, Iss 5, p e10635 (2010)

BackgroundThe polyunsaturated fatty acid (PUFA) composition of (nerve) cell membranes may be involved in the pathophysiology of depression. Studies so far, focussed mainly on omega-3 and omega-6 PUFAs. In the present study, saturated fatty acids (SFA

Externí odkaz: https://doaj.org/article/f480c19ee65d41d4b55620da350f670c

Identification of human D lactate dehydrogenase deficiency

Autor: Karen Duran, Johanna C. van Alfen, Paolo Bosco, Judith J.M. Jans, Paulien A Terhal, Saskia N. van der Crabben, Gepke Visser, Koen L.I. van Gassen, Markus J. van Roosmalen, Karin Geleijns, Tom J. de Koning, Nanda M. Verhoeven-Duif, Marinus Duran, Francesco Calì, Monique G.M. de Sain-van der Velden, Glen R. Monroe, Klaske D. Lichtenbelt, Bart G. Koot, Sabine A. Fuchs, Marlies Oostendorp, Johan Gerrits, Nine V A M Knoers, Albertien M. van Eerde, Mirjam van Aalderen, Sanne M C Savelberg, Federico Tessadori, Jeroen Bakkers, Gijs van Haaften

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Nature Communications, 10(1):1477. Nature Publishing Group
Nature Communications, 10(1). Nature Publishing Group
Monroe, G R, van Eerde, A M, Tessadori, F, Duran, K J, Savelberg, S M C, van Alfen, J C, Terhal, P A, van der Crabben, S N, Lichtenbelt, K D, Fuchs, S A, Gerrits, J, van Roosmalen, M J, van Gassen, K L, van Aalderen, M, Koot, B G, Oostendorp, M, Duran, M, Visser, G, de Koning, T J, Calì, F, Bosco, P, Geleijns, K, de Sain-van der Velden, M G M, Knoers, N V, Bakkers, J, Verhoeven-Duif, N M, van Haaften, G & Jans, J J 2019, ' Identification of human D lactate dehydrogenase deficiency ', Nature Communications, vol. 10, no. 1, 1477 . https://doi.org/10.1038/s41467-019-09458-6
Nature communications, 10(1):1477. Nature Publishing Group
Nature Communications, 10:1477. Nature Publishing Group
Nature Communications

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c63c8ce0e9c61ce260d91449b6ce028
https://doi.org/10.1038/s41467-019-09458-6

Polyunsaturated fatty acid status in treated isovaleric acidemia patients

Autor: R. J. A. Wanders, Marinus Duran, Carolus J. Reinecke, Lodewyk J. Mienie, Wim Kulik, Marli Dercksen

Publikováno v: European journal of clinical nutrition, 70(10), 1123-1126. Nature Publishing Group

Nutritional deficiencies are frequently observed when treating patients with inborn errors of metabolism due to an unbalanced diet. Thus far, patients with isovaleric acidemia (IVA) who adhere to a restricted protein diet have not been investigated i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7855a04b9105f161a983a318f408725
https://doi.org/10.1038/ejcn.2016.100

Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

Autor: Lodewijk IJlst, A. G. van Cruchten, Marli Dercksen, F.H. van der Westhuizen, R. J. A. Wanders, Marinus Duran, Lodewyk J. Mienie

Publikováno v: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1842(12 Part A), 2510-2516. Elsevier

Hyperammonemia is a frequent finding in various organic acidemias. One possible mechanism involves the inhibition of the enzyme N-acetylglutamate synthase (NAGS), by short-chain acyl-CoAs which accumulate due to defective catabolism of amino acids an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f599d9876508378cedeef4f6b568c36