Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism
Bezerra, Gustavo A, Foster, William R, Bailey, Henry J, Hicks, Kevin G, Sauer, Sven W, Dimitrov, Bianca, McCorvie, Thomas J, Okun, Jürgen G, Rutter, Jared, Kölker, Stefan, Yue, Wyatt W
Published in IUCrJ (01.07.2020)
Published in IUCrJ (01.07.2020)
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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
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Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data
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Published in Journal of inherited metabolic disease (01.05.2023)
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Published in Journal of inherited metabolic disease (01.01.2021)
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ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
Seidl, Marie J., Scharre, Svenja, Posset, Roland, Druck, Ann-Catrin, Epp, Friederike, Okun, Jürgen G., Dimitrov, Bianca, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias
Published in Molecular genetics and metabolism (01.01.2024)
Published in Molecular genetics and metabolism (01.01.2024)
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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature
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Published in Molecular genetics and metabolism (01.08.2022)
Published in Molecular genetics and metabolism (01.08.2022)
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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E, Ranucci, Giusy, Thiel, Christian, Straub, Beate K, Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W, Kuloğlu, Zarife, Blakely, Emma L, Taylor, Robert W, Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F, Haack, Tobias B, Staufner, Christian
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Exploring genotype–phenotype correlations in glutaric aciduria type 1
Schuurmans, Imke M. E., Dimitrov, Bianca, Schröter, Julian, Ribes, Antonia, Fuente, Rubén Pérez, Zamora, Berta, Karnebeek, Clara D. M., Kölker, Stefan, Garanto, Alejandro
Published in Journal of inherited metabolic disease (01.05.2023)
Published in Journal of inherited metabolic disease (01.05.2023)
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Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
Himmelreich, Nastassja, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Hutter, Anna‐Marlen, Beedgen, Lars, Hüllen, Andreas, Breuer, Maximilian, Peters, Verena, Thiemann, Kai‐Christian, Hoffmann, Georg F., Sinning, Irmgard, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Barrey, Catherine, Denecke, Jonas, Kölfen, Wolfgang, Düker, Gesche, Ganschow, Rainer, Lentze, Michael J., Moore, Stuart, Seta, Nathalie, Ziegler, Andreas, Thiel, Christian
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
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Published in Molecular genetics and metabolism (01.03.2018)
Published in Molecular genetics and metabolism (01.03.2018)
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Journal Article
Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism
Bezerra, Gustavo A, Foster, William R, Bailey, Henry J, Hicks, Kevin G, Sauer, Sven W, Dimitrov, Bianca, Okun, Juergen G, Rutter, Jared, Koelker, Stefan, Yue, Wyatt W
Published in bioRxiv (20.01.2020)
Published in bioRxiv (20.01.2020)
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