Himmelreich, Nastassja Dr. rer. nat.Universität HeidelbergHeidelberg
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Publications in heiBIB 
- 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
- Himmelreich, Nastassja: Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants : a PAH landscape / Nastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, Natalia Castejon-Fernandez, Sven F. G… , July 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 3 vom: Juli, Artikel-ID 108514, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108514
- Himmelreich, Nastassja: Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , 7 July 2023. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 4, Artikel-ID 107647, Seite 1-5
DOI: 10.1016/j.ymgme.2023.107647
- 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
- Himmelreich, Nastassja: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , July 2023. - 15 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107624, Seite 1-15
DOI: 10.1016/j.ymgme.2023.107624
- Himmelreich, Nastassja: Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations / Nastassja Himmelreich, Riccardo Montioli, Sven F. Garbade, Jeffrey Kopesky, Sarah H. Elsea, Carla Ca… , 22 November 2022. - 23 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 359-381
DOI: 10.1016/j.ymgme.2022.11.003
- 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
- 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
- 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
- Himmelreich, Nastassja: Aromatic amino acid decarboxylase deficiency : Molecular and metabolic basis and therapeutic outlook / Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Corin… , 27 March 2019
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 1, Seite 12-22
DOI: 10.1016/j.ymgme.2019.03.009
- 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
- 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
- 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
- Jung, Kunwar: Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12 / Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård, Tie-Jun Sten Shi, Tanja Scherer, Ming Y… , 22 January 2019. - 12 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 4, Seite 483-494
DOI: 10.1002/humu.23712
- Muniz, Joao R. C.: Role of protein structure in variant annotation : structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency / Joao R.C. Muniz, Natalie Wing-Sum Szeto, Rebecca Frise, Wen Hwa Lee, Xian-Song Wang, Beat Thöny, Nas… , 8 March 2019. - 7 S.
In: Pathology, ISSN 1465-3931. 51(2019), 3, Seite 274-280
DOI: 10.1016/j.pathol.2018.11.011
- 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
- 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
- Garbade, Sven: Allelic phenotype values : a model for genotype-based phenotype prediction in phenylketonuria / Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffma… , 2019. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 3, Seite 580-590
DOI: 10.1038/s41436-018-0081-x
- Spronsen, F. J. van: Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia : from attention deficit to severe dystonia and intellectual disability / Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, M… , 2018. - 5 S.
In: Journal of medical genetics, ISSN 1468-6244. 55(2018), 4, Seite 249-253
DOI: 10.1136/jmedgenet-2017-104875
- 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
- Himmelreich, Nastassja: Analyse der Signaltransduktion während der frühen Embryogenese in einem Xenopus laevis- Modell zu ‚PMM2-CDG‘ / vorgelegt von Diplom-Biologin Nastassja Himmelreich. -
Heidelberg, 2016. - 1 Online-Ressource (180 Seiten)
DOI: 10.11588/heidok.00018165
- Himmelreich, Nastassja: Analyse der Signaltransduktion während der frühen Embryogenese in einem Xenopus-laevis-Modell zu 'PMM2-CDG' / vorgelegt von Nastassja Himmelreich, 2015. - XVI, 160 S. : Ill., graph. Darst.
