heiBIB: Thiel, Christian

Thiel, Christian Dr. rer. nat.; PD Dr. rer.nat.Universität HeidelbergHeidelberg

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englisch (51)
deutsch (1)

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Publikationen in heiBIB

Pakari, Kaisa: Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis / Kaisa Pakari, Sevinç Jakab, Encarnación Sánchez Salvador, Christian Thiel, Joachim Wittbrodt, Thomas… , May 23, 2025. - 22 S.
In: bioRxiv beta. (2025) vom: Mai, Artikel-ID 2025.05.23.655727, Seite 1-22
DOI: 10.1101/2025.05.23.655727
Wortmann, Saskia B.: Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants / Saskia B. Wortmann, MD, PhD, Rene G. Feichtinger, PhD, Lucia Abela, MD, Loes A. van Gemert, MD, M´el… , April 5, 2024. - 13 S. : Illustrationen
In: Neurology, ISSN 2376-7839. 10(2024), 2 vom: Apr., Artikel-ID e200146, Seite 1-13
DOI: 10.1212/NXG.0000000000200146
Interdonato, Livia: Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation / Livia Interdonato, Nastassja Himmelreich, Sven F. Garbade, Dan Wen, Marina Morath, Rosanna Di Paola,… , 3 September 2024. - 5 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 143(2024), 1/2 vom: Okt., Artikel-ID 108571, Seite 1-5
DOI: 10.1016/j.ymgme.2024.108571
Sakson, Roman: Targeted proteomics reveals quantitative differences in low-abundance glycosyltransferases of patients with congenital disorders of glycosylation / Roman Sakson, Lars Beedgen, Patrick Bernhard, K. Merve Alp, Nicole Lübbehusen, Ralph Röth, Beate Nie… , 18 January 2024. - 17 S.
In: International journal of molecular sciences, ISSN 1422-0067. 25(2024), 2, Artikel-ID 1191, Seite 1-17
DOI: 10.3390/ijms25021191
Achleitner, Melanie T.: PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening / Melanie T. Achleitner, Judith J.M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, R… , 10 November 2023. - 14 S. : Illustrationen
In: Metabolites, ISSN 2218-1989. 13(2023), 11, Artikel-ID 1141, Seite 1-14
DOI: 10.3390/metabo13111141
Himmelreich, Nastassja: Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches / Nastassja Himmelreich, Frauke Kikul, Lucie Zdrazilova, Tomáš Honzik, Andreas Hecker, Gernot Poschet,… , 26 May 2023. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107610, Seite 1-10
DOI: 10.1016/j.ymgme.2023.107610
Pfeffer, Tilman: Carnosinase-1 knock-out reduces kidney fibrosis in type-1 diabetic mice on high fat diet / Tilman Pfeffer, Charlotte Wetzel, Philip Kirschner, Maria Bartosova, Tanja Poth, Constantin Schwab, … , 14 June 2023. - 15 S.
In: Antioxidants, ISSN 2076-3921. 12(2023), 6, Artikel-ID 1270, Seite 1-15
DOI: 10.3390/antiox12061270
Beedgen, Lars: A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies / Lars Beedgen, Andreas Hüllen, Sevinç Gücüm, Thomas Thumberger, Jochen Wittbrodt, Christian Thiel. -
London: Sage Publications, 21 Jun. 2022. - 1 Online-Ressource (9 Seiten)
DOI: 10.11588/heidok.00031793
Himmelreich, Nastassja: 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 / Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann,… , 26 June 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 4, Seite 274-281
DOI: 10.1016/j.ymgme.2022.06.005
Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
DOI: 10.1002/jimd.12412
Wilson, Matthew P.: Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings / Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Mar… , October 14, 2021. - 15 S.
In: The American journal of human genetics, ISSN 1537-6605. 108(2021), 11, Seite 2130-2144
DOI: 10.1016/j.ajhg.2021.09.012
Noor, Sina Ibne: Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion / Sina Ibne Noor, Marcus Hoffmann, Natalie Rinis, Markus F. Bartels, Patrick R. Winterhalter, Christin… , February 18, 2021. - 19 S.
In: The journal of biological chemistry, ISSN 1083-351X. 296(2021), Artikel-ID 100433, Seite 1-19
DOI: 10.1016/j.jbc.2021.100433
Feichtinger, René: A spoonful of L-fucose : an efficient therapy for GFUS-CDG, a new glycosylation disorder / René G. Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Pe… , 1 September 2021. - 15 S.
In: EMBO molecular medicine, ISSN 1757-4684. 13(2021), 9 vom: Sept., Artikel-ID e14332, Seite 1-15
DOI: 10.15252/emmm.202114332
Jakab, Sevinç: A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation / Sevinç Gücüm, Roman Sakson, Marcus Hoffmann, Valerian Grote, Clara Becker, Kaisa Pakari, Lars Beedge… , 09 June 2021. - 16 S.
In: Development, ISSN 1477-9129. 148(2021), 11, Artikel-ID dev.199385, Seite 1-16
DOI: 10.1242/dev.199385
Jakab, Sevinç: The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa / Sevinç Gücüm, Roman Sakson, Marcus Hoffmann, Valerian Grote, Lars Beedgen, Christian Thiel, Erdmann … , August 24, 2020. - 40 S.
In: bioRxiv beta. (2020) vom: Aug., Artikel-ID 2020.08.20.260430, Seite 1-40
DOI: 10.1101/2020.08.20.260430
Görlacher, Marlen: Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects / Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca… , 7 November 2020. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 25(2020) vom: Dez., Artikel-ID 100673, Seite 1-6
DOI: 10.1016/j.ymgmr.2020.100673
Weigand, Tim: A global Cndp1-knock-out selectively increases renal carnosine and anserine concentrations in an age- and gender-specific manner in mice / Tim Weigand, Florian Colbatzky, Tilman Pfeffer, Sven F. Garbade, Kristina Klingbeil, Florian Colbatz… , 10 July 2020. - 20 S.
In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 14, Artikel-ID 4887, Seite 1-20
DOI: 10.3390/ijms21144887
Massa Lopez, David: The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP / David Massa López, Melanie Thelen, Felix Stahl, Christian Thiel, Arne Linhorst, Marc Sylvester, Irm … , 29 October 2019. - 27 S.
In: eLife, ISSN 2050-084X. 8(2019) Artikel-Nummer e50025, 27 Seiten
DOI: 10.7554/eLife.50025
Himmelreich, Nastassja: 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 / Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars… , 08 May 2019. - 14 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 7, Seite 938-951
DOI: 10.1002/humu.23764
Grünert, Sarah: Unsuccessful intravenous D-mannose treatment in PMM2-CDG / Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, A… , 22 October 2019. - 6 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 14(2019) Artikel-Nummer 231, 6 Seiten
DOI: 10.1186/s13023-019-1213-3
Altassan, Ruqaiah: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation : Diagnosis, treatment and follow up / Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasi… , 11 February 2019. - 26 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 5-28
DOI: 10.1002/jimd.12024
Imle, Roland: ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing / Roland Imle, Bei-Tzu Wang, Nicolas Stützenberger, Jana Birkenhagen, Amol Tandon, Matthias Carl, Nast… , 03 October 2019. - 12 S.
In: Scientific reports, ISSN 2045-2322. 9(2019) Artikel-Nummer 14248, 12 Seiten
DOI: 10.1038/s41598-019-50566-6
Fischer-Zirnsak, Björn: SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy / Björn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, Nilay Güneş, Ingrid Hausser, Namrata Saha, Stefa… , 24 April 2019. - 8 S.
In: Journal of human genetics, ISSN 1435-232X. 64(2019), 7, Seite 609-616
DOI: 10.1038/s10038-019-0602-8
Radenkovic, Silvia: The metabolic map into the pathomechanism and treatment of PGM1-CDG / Silvia Radenkovic, Matthew J. Bird, Tim L. Emmerzaal, Sunnie Y. Wong, Catarina Felgueira, Kyle M. St… , April 11, 2019. - 12 S.
In: American journal of human genetics, ISSN 0002-9297. 104(2019), 5, Seite 835-846
DOI: 10.1016/j.ajhg.2019.03.003
Medina-Cano, Daniel: High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect / Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michael Nicouleau, Joanna Lipecka, Jean-Charles Biz… , 12 October 2018. - 27 S.
In: eLife, ISSN 2050-084X. 7(2018) Artikel-Nummer e38309, 27 Seiten
DOI: 10.7554/eLife.38309
Dimitrov, Bianca: Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG / Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G.… , 2018. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 3, Seite 364-374
DOI: 10.1016/j.ymgme.2018.01.008
Lenz, Dominic: SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) / Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Bea… , 08 February 2018. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 10, Seite 1255-1265
DOI: 10.1038/gim.2017.260
Himmelreich, Nastassja: Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria / Nastassja Himmelreich, Nan Shen, Jürgen G. Okun, Christian Thiel, Georg F. Hoffmann, Nenad Blau, 23 June 2018. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 125(2018), 1, Seite 86-95
DOI: 10.1016/j.ymgme.2018.06.011
Weigand, Tim: Carnosine catalyzes the formation of the oligo/polymeric products of methylglyoxal / Tim Weigand, Benjamin Singler, Thomas Fleming, Peter Nawroth, Karel D. Klika, Christian Thiel, Hans … , April 05, 2018. - 14 S.
In: Cellular physiology and biochemistry, ISSN 1421-9778. 46(2018), 2, Seite 713-726
DOI: 10.1159/000488727
Abu Bakar, Nurulamin: Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency / Nurulamin Abu Bakar, Nicol C. Voermans, Thorsten Marquardt, Christian Thiel, Mirian C.H. Janssen, Ha… , 10 May 2018. - 15 S.
In: Translational research, ISSN 1878-1810. 199(2018), Seite 62-76
DOI: 10.1016/j.trsl.2018.04.008
Lehmann, Lorenz: A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway / Lorenz H. Lehmann, Zegeye H. Jebessa, Michael M. Kreusser, Axel Horsch, Tao He, Mariya Kronlage, Mat… , 2018. - 11 S.
In: Nature medicine, ISSN 1546-170X. 24(2018), 1, Seite 62-72
DOI: 10.1038/nm.4452
Péanne, Romain: Congenital disorders of glycosylation (CDG) : quo vadis? / Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Eva Morava, Belén… , [2018]. - 21 S.
In: European journal of medical genetics, ISSN 1878-0849. 61(2018), 11, Seite 643-663
DOI: 10.1016/j.ejmg.2017.10.012
Nolting, Kristine: Limitations of galactose therapy in phosphoglucomutase 1 deficiency / Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan … , December 2017. - 8 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 13(2017), Seite 33-40
DOI: 10.1016/j.ymgmr.2017.07.010
Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… , 30 June 2017. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, Seite 297-307
DOI: 10.1016/j.ymgme.2017.06.014
Wong, Sunnie Yan-Wai: Oral D-galactose supplementation in PGM1-CDG / Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja… . - 10 S.
In: Genetics in medicine, ISSN 1530-0366. 19(2017), 11, S. 1226-1235
DOI: 10.1038/gim.2017.41
Peters, Verena: Allosteric inhibition of carnosinase (CN1) by inducing a conformational shift / Verena Peters, Claus P. Schmitt, Tim Weigand, Kristina Klingbeil, Christian Thiel, Antje van den Ber… , 04 Aug 2017. - 9 S.
In: Journal of enzyme inhibition and medicinal chemistry, ISSN 1475-6374. 32(2017), 1, Seite 1102-1110
DOI: 10.1080/14756366.2017.1355793
Taubenschmid, Jasmin: A vital sugar code for ricin toxicity / Jasmin Taubenschmid, Johannes Stadlmann, Markus Jost, Tove Irene Klokk, Cory D. Rillahan, Andreas Le… . - 14 S.
In: Cell research, ISSN 1748-7838. 27(2017), 11, S. 1351-1364
DOI: 10.1038/cr.2017.116
Van Damme, Tim: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa / Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brec… , 2017. - 12 S.
In: The American journal of human genetics, ISSN 1537-6605. 100(2017), 2, Seite 216-227
DOI: 10.1016/j.ajhg.2016.12.010
Morava-Kozicz, Eva: ALG6-CDG : a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies / Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mu… , 10 June 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 713-723
DOI: 10.1007/s10545-016-9945-x
Morava-Kozicz, Eva: Erratum to : ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies / Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mu… , 8 August 2016. - 1 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 759-759
DOI: 10.1007/s10545-016-9967-4
Rafiullah, Rafiullah: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family / Rafiullah Rafiullah, Muhammad Aslamkhan, Nagarajan Paramasivam, Christian Thiel, Ghulam Mustafa, Ste… , 2016. - 7 S.
In: Journal of medical genetics, ISSN 1468-6244. 53(2016), 2, Seite 138-144
DOI: 10.1136/jmedgenet-2015-103179
Frongia, Giovanni: Significance of the extent of intestinal resection on the outcome of a short-bowel syndrome in a porcine model / Giovanni Frongia, MD, Arash Nickkholgh, MD, Mohammad Reza Hafezi M, MD, Jalal Arvin, MD, Arash Saffa… , 2016. - 9 S.
In: Journal of investigative surgery, ISSN 1521-0553. 29(2016), 1, Seite 57-65
DOI: 10.3109/08941939.2015.1057304
Shen, Nan: Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation / Nan Shen, Caroline Heintz, Christian Thiel, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau, 12 January 2016. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 117(2016), 3, Seite 328-335
DOI: 10.1016/j.ymgme.2016.01.004
Himmelreich, Nastassja: Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling / Nastassja Himmelreich, Lilian T. Kaufmann, Herbert Steinbeisser, Christian Körner, Christian Thiel, 04 July 2015. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1137-1146
DOI: 10.1007/s10545-015-9874-0
Thiel, Christian: Christian Körner / Christian Thiel, 17 March 2015. - 1 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 3, Seite 589-589
DOI: 10.1007/s10545-015-9835-7
Staufner, Christian: Recurrent acute liver failure due to NBAS deficiency : phenotypic spectrum, disease mechanisms, and therapeutic concepts / Christian Staufner, Tobias B. Haack, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 2016. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 1, Seite 3-16
DOI: 10.1007/s10545-015-9896-7
Haack, Tobias: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy / Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 11 June 2015. - 7 S.
In: The American journal of human genetics, ISSN 1537-6605. 97(2015), 1, Seite 163-169
DOI: 10.1016/j.ajhg.2015.05.009
Thiel, Christian: Screening for congenital disorders of glycosylation in the first weeks of life / Christian Thiel, Dorothea Meßner-Schmitt, Georg F. Hoffmann, Christian Körner, 2013. - 6 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 5, Seite 887-892
DOI: 10.1007/s10545-012-9531-9
Thiel, Christian: Therapies and therapeutic approaches in congenital disorders of glycosylation / Christian Thiel, Christian Körner, 2013. - 8 S.
In: Glycoconjugate journal, ISSN 1573-4986. 30(2013), 1, Seite 77-84
DOI: 10.1007/s10719-012-9447-5
Thiel, Christian: Angeborene Defekte der Glykosylierung in Mensch und Maus / vorgelegt von Christian Thiel, 2013. - Getr. Zählung : Ill., graph. Darst.
Drijvers, Jefte M.: Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations / JM Drijvers, DJ Lefeber, SA de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, RA … , 9 April 2010. - 3 S.
In: Clinical genetics, ISSN 1399-0004. 77(2010), 5, Seite 507-509
DOI: 10.1111/j.1399-0004.2009.01349.x
Sauer, Sven: Glutaric aciduria type I and methylmalonic aciduria : simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus / Sven W. Sauer, Silvana Opp, Anne Mahringer, Marcin M. Kamiński, Christian Thiel, Jürgen G. Okun, Ger… , 2010. - 9 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1802(2010), 6, Seite 552-560
DOI: 10.1016/j.bbadis.2010.03.003

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