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ArticlesPeer ReviewedFull Text
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Author / Creator:Wang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E. C. ; Mendes, Marisa I. ; Chen, Dillon Y. ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O. ; Houlden, Henry ; Salomons, Gajja S. ; Gleeson, Joseph G.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-02, Vol.12 (1), p.1192-1192, Article 1192
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Author / Creator:Wang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E. C. ; Mendes, Marisa I. ; Chen, Dillon Y. ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O. ; Houlden, Henry ; Salomons, Gajja S. ; Gleeson, Joseph G.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-08, Vol.11 (1), p.4038-12, Article 4038
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Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia
Author / Creator:Oosterom, Natanja ; de Jonge, Robert ; Smith, Desiree E C ; Pieters, Rob ; Tissing, Wim J E ; Fiocco, Marta ; van Zelst, Bertrand D ; van den Heuvel-Eibrink, Marry M ; Heil, Sandra G
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-09, Vol.14 (9), p.e0221591-e0221591
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Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
Author / Creator:Del Greco, Christina ; Kuo, Molly E. ; Smith, Desiree E. C. ; Mendes, Marisa I. ; Salamons, Gajja S. ; Nemcovic, Marek ; Kodrikova, Rebeka ; Sestak, Sergej ; Stancheva, Malina ; Antonellis, Anthony
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-02, Vol.13 (2), p.e70078-n/a
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Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity
Author / Creator:Sipkens, Jessica A. ; Hahn, Nynke ; van den Brand, Carlien S. ; Meischl, Christof ; Cillessen, Saskia A. G. M. ; Smith, Desirée E. C. ; Juffermans, Lynda J. M. ; Musters, René J. P. ; Roos, Dirk ; Jakobs, Cornelis ; Blom, Henk J. ; Smulders, Yvo M. ; Krijnen, Paul A. J. ; Stehouwer, Coen D. A. ; Rauwerda, Jan A. ; van Hinsbergh, Victor W. M. ; Niessen, Hans W. M.
Publisher:Boston: Springer US
Journal title:Cell biochemistry and biophysics, 2013-11, Vol.67 (2), p.341-352
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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
Author / Creator:Mendes, Marisa I. S. ; Colaço, Henrique G. ; Smith, Desirée E. C. ; Ramos, Rúben J. J. F. ; Pop, Ana ; van Dooren, Silvy J. M. ; Tavares de Almeida, Isabel ; Kluijtmans, Leo A. J. ; Janssen, Mirian C. H. ; Rivera, Isabel ; Salomons, Gajja S. ; Leandro, Paula ; Blom, Henk J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.245-254
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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Author / Creator:Lenz, Dominic ; Smith, Desirée E. C. ; Crushell, Ellen ; Husain, Ralf A. ; Salomons, Gajja S. ; Alhaddad, Bader ; Bernstein, Jonathan A. ; Bianzano, Alyssa ; Biskup, Saskia ; Brennenstuhl, Heiko ; Caldari, Dominique ; Dikow, Nicola ; Haack, Tobias B. ; Hanson-Kahn, Andrea ; Harting, Inga ; Horn, Denise ; Hughes, Joanne ; Huijberts, Maya ; Isidor, Bertrand ; Kathemann, Simone ; Kopajtich, Robert ; Kotzaeridou, Urania ; Küry, Sébastien ; Lainka, Elke ; Laugwitz, Lucia ; Lupski, James R. ; Posey, Jennifer E. ; Reynolds, Claire ; Rosenfeld, Jill A. ; Schröter, Julian ; Vansenne, Fleur ; Wagner, Matias ; Weiß, Claudia ; Wolffenbuttel, Bruce H. R. ; Wortmann, Saskia B. ; Kölker, Stefan ; Hoffmann, Georg F. ; Prokisch, Holger ; Mendes, Marisa I. ; Staufner, Christian
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-11, Vol.22 (11), p.1863-1873
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Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis
Author / Creator:Sipkens, Jessica A ; Krijnen, Paul A. J ; Meischl, Christof ; Cillessen, Saskia A. G. M ; Smulders, Yvo M ; Smith, Desirée E. C ; Giroth, Cindy P. E ; Spreeuwenberg, Marieke D ; Musters, René J. P ; Muller, Alice ; Jakobs, Cornelis ; Roos, Dirk ; Stehouwer, Coen D. A ; Rauwerda, Jan A ; van Hinsbergh, Victor W. M ; Niessen, Hans W. M
Publisher:Netherlands: New York : Kluwer Academic Publishers-Plenum Publishers
Journal title:Apoptosis (London), 2007-08, Vol.12 (8), p.1407-1418
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ArticlesPeer ReviewedFull Text
5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
Author / Creator:Liepina, Lelde ; Smith, Desiree E. C. ; Huidekoper, Hidde ; Zeidler, Shimriet ; Wamelink, Mirjam ; Wit, Marie‐Claire ; Wilke, Martina ; Ruijter, George ; Bierau, Jörgen ; Blom, Henk J.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-03, Vol.65 (2), p.49-55
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Evaluation of the novel folate receptor ligand [18F]fluoro-PEG-folate for macrophage targeting in a rat model of arthritis
Author / Creator:Gent, Yoony Y J ; Weijers, Karin ; Molthoff, Carla F M ; Windhorst, Albert D ; Huisman, Marc C ; Smith, Desirée E C ; Kularatne, Sumith A ; Jansen, Gerrit ; Low, Philip S ; Lammertsma, Adriaan A ; van der Laken, Conny J
Publisher:England: BioMed Central Ltd
Journal title:Arthritis research & therapy, 2013-03, Vol.15 (2), p.R37-R37, Article R37
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Treatment of ARS deficiencies with specific amino acids
Author / Creator:Kok, Gautam ; Tseng, Laura ; Schene, Imre F. ; Dijsselhof, Monique E. ; Salomons, Gajja ; Mendes, Marisa I. ; Smith, Desiree E. C. ; Wiedemann, Arnaud ; Canton, Marie ; Feillet, François ; de Koning, Tom J. ; Boothe, Megan ; Dean, Joy ; Kassel, Rachel ; Ferreira, Elise A. ; van den Born, Margreet ; Nieuwenhuis, Edward E. S. ; Rehmann, Holger ; Terheggen-Lagro, Suzanne W. J. ; van Karnebeek, Clara D. M. ; Fuchs, Sabine A.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-11, Vol.23 (11), p.2202-2207
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SLC26A1 is a major determinant of sulfate homeostasis in humans
Author / Creator:Pfau, Anja ; López-Cayuqueo, Karen I ; Scherer, Nora ; Wuttke, Matthias ; Wernstedt, Annekatrin ; González Fassrainer, Daniela ; Smith, Desiree Ec ; van de Kamp, Jiddeke M ; Ziegeler, Katharina ; Eckardt, Kai-Uwe ; Luft, Friedrich C ; Aronson, Peter S ; Köttgen, Anna ; Jentsch, Thomas J ; Knauf, Felix
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-11
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Expanded phenotype of AARS1-related white matter disease
Author / Creator:Helman, Guy ; Mendes, Marisa I. ; Nicita, Francesco ; Darbelli, Lama ; Sherbini, Omar ; Moore, Travis ; Derksen, Alexa ; Amy Pizzino ; Carrozzo, Rosalba ; Torraco, Alessandra ; Catteruccia, Michela ; Aiello, Chiara ; Goffrini, Paola ; Figuccia, Sonia ; Smith, Desiree E. C. ; Hadzsiev, Kinga ; Hahn, Andreas ; Biskup, Saskia ; Brösse, Ines ; Kotzaeridou, Urania ; Gauck, Darja ; Grebe, Theresa A. ; Elmslie, Frances ; Stals, Karen ; Gupta, Rajat ; Bertini, Enrico ; Thiffault, Isabelle ; Taft, Ryan J. ; Schiffmann, Raphael ; Brandl, Ulrich ; Haack, Tobias B. ; Salomons, Gajja S. ; Simons, Cas ; Bernard, Geneviève ; van der Knaap, Marjo S. ; Vanderver, Adeline ; Husain, Ralf A.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2352-2359
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Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47(phox)
Author / Creator:Sipkens, Jessica A ; Krijnen, Paul A J ; Hahn, Nynke E ; Wassink, Melissa ; Meischl, Christof ; Smith, Desirée E C ; Musters, René J P ; Stehouwer, Coen D A ; Rauwerda, Jan A ; van Hinsbergh, Victor W M ; Niessen, Hans W M
Publisher:Netherlands
Journal title:Molecular and cellular biochemistry, 2011-12, Vol.358 (1-2), p.229-239
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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients: 50 years of Newborn Screen...
Author / Creator:MENDES, Marisa I. S ; COLACO, Henrique G ; SALOMONS, Gajja S ; LEANDRO, Paula ; BLOM, Henk J ; SMITH, Desirée E. C ; RAMOS, Rúben J. J. F ; POP, Ana ; VAN DOOREN, Silvy J. M ; DE ALMEIDA, Isabel Tavares ; KLUIJTMANS, Leo A. J ; JANSSEN, Mirian C. H ; RIVERA, Isabel
Publisher:Heidelberg: Springer
Journal title:Journal of inherited metabolic disease, 2014, Vol.37 (2), p.245-254
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Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47^sup phox
Author / Creator:Sipkens, Jessica A ; Krijnen, Paul A; J ; Hahn, Nynke E ; Wassink, Melissa ; Meischl, Christof ; Smith, Desirée E; C ; Musters, René J; P ; Stehouwer, Coen D; A ; Rauwerda, Jan A ; van Hinsbergh, Victor W; M ; Niessen, Hans W; M
Publisher:New York: Springer Nature B.V
Journal title:Molecular and cellular biochemistry, 2011-12, Vol.358 (1-2), p.229
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ArticlesPeer ReviewedFull Text
Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47phox
Author / Creator:Sipkens, Jessica A. ; Krijnen, Paul A. J. ; Hahn, Nynke E. ; Wassink, Melissa ; Meischl, Christof ; Smith, Desirée E. C. ; Musters, René J. P. ; Stehouwer, Coen D. A. ; Rauwerda, Jan A. ; van Hinsbergh, Victor W. M. ; Niessen, Hans W. M.
Publisher:Boston: Springer US
Journal title:Molecular and cellular biochemistry, 2011-12, Vol.358 (1-2), p.229-239
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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia

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Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

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Homocysteine-Induced Apoptosis in Endothelial Cells Coincides With Nuclear NOX2 and Peri-nuclear NOX4 Activity

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

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Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis

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5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

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Evaluation of the novel folate receptor ligand [18F]fluoro-PEG-folate for macrophage targeting in a rat model of arthritis

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Treatment of ARS deficiencies with specific amino acids

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SLC26A1 is a major determinant of sulfate homeostasis in humans

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Expanded phenotype of AARS1-related white matter disease

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Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47(phox)

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients: 50 years of Newborn Screen...

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Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47^sup phox

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Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47phox

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