Johannes Häberle

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 19

Top Topics

Recombinant Human

Top Venues

Journal of inherited metabolic disease

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Toni Vuković, Li Eon Kuek, Barbara Yu, Georgios Makris, Johannes Häberle
The therapeutic landscape of citrin deficiency. Journal of inherited metabolic disease (2024)
Johannes Häberle
Citrin deficiency-The East-side story. Journal of inherited metabolic disease (2024)
Georgios Makris, Lara Veit, Véronique Rüfenacht, Sven Klassa, Nadia Zürcher, Shirou Matsumoto, Martin Poms, Johannes Häberle
Expression and function of the urea cycle in widely-used hepatic cellular models. Journal of inherited metabolic disease (2024)
Nadine Gougeard, Enea Sancho-Vaello, María Leonor Fernández-Murga, Borja Martínez-Sinisterra, Badr Loukili-Hassani, Johannes Häberle, Clara Marco-Marin, Vicente Rubio
Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency. Journal of inherited metabolic disease (2024)
Johannes Häberle, Barbara Siri, Carlo Dionisi-Vici
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future. Journal of inherited metabolic disease (2024)
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez-Fernandez, Philip A Knobel, Martin Poms, Nadine Gougeard, Vicente Rubio, Aurora Martinez, Martin Pruschy, Johannes Häberle
Impact of small molecule-mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism. Cancer communications (London, England) (2023)
Bigna Katrin Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
Leandro R Soria, Georgios Makris, Alfonso M D'Alessio, Angela De Angelis, Iolanda Boffa, Veronica Maria Pravatà, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T Ferenbach, Debora Paris, Paola Cuomo, Rosanna Capparelli, Matthew Nitzahn, Gerald S Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes Ruiz Desviat, Johannes Häberle, Daan M F van Aalten, Nicola Brunetti-Pierri
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. Nature communications 13 (1) (2022)
Johannes Häberle, Marvin B Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, Estela Rubio-Gozalbo, Mendel Tuchman, Nicola Longo, Mark Yandell, Ashley Andrews, Nicholas AhMew, Ljubica Caldovic
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. Human mutation 42 (12) (2021)
Johannes Häberle, Beat Thöny
Editorial. Journal of inherited metabolic disease 42 (6) (2020)
Johannes Häberle
Primary hyperammonaemia: Current diagnostic and therapeutic strategies. Journal of mother and child 24 (2) (2020)
Jasmine Isler, Véronique Rüfenacht, Corinne Gemperle, Gabriella Allegri, Johannes Häberle
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing. JIMD reports 52 (1) (2020)
Johannes Häberle, Véronique Rüfenacht
Response to Baertling et al. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle
Sitosterolemia-10 years observation in two sisters. JIMD reports 48 (1) (2019)
Gabriella Allegri, Sereina Deplazes, Nicole Rimann, Benjamin Causton, Tanja Scherer, Jonathan W Leff, Carmen Diez-Fernandez, Anna Klimovskaia, Ralph Fingerhut, Jakub Krijt, Viktor Kožich, Jean-Marc Nuoffer, Hiu M Grisch-Chan, Beat Thöny, Johannes Häberle
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. Journal of inherited metabolic disease 42 (6) (2019)
Johannes Häberle, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Daniela Karall, Martin Lindner, Hanna Mandel, Diego Martinelli, Guillem Pintos-Morell, René Santer, Anastasia Skouma, Aude Servais, Galit Tal, Vicente Rubio, Martina Huemer, Carlo Dionisi-Vici
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. Journal of inherited metabolic disease 42 (6) (2019)
Hesham M Ismail, Navaneethakrishnan Krishnamoorthy, Nader Al-Dewik, Hatem Zayed, Nura A Mohamed, Valeria Di Giacomo, Sapna Gupta, Johannes Häberle, Beat Thöny, Henk J Blom, Warren D Kruger, Tawfeg Ben-Omran, Gheyath K Nasrallah
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. Human mutation 40 (2) (2018)
Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, Ralph Fingerhut, Johannes Häberle
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Human mutation 39 (8) (2018)
Carmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, Allan M Lund, René Santer, Martin Lindner, Trine Tangeraas, Caroline Unsinn, Pascale de Lonlay, Alberto Burlina, Clara D M van Karnebeek, Johannes Häberle
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in medicine : official journal of the American College of Medical Genetics 18 (10) (2016)