Publications by authors named "Jochen Reiss"

18Publications

Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections.

Authors:
Jochen Reiss

Hum Genet 2019 Apr 27;138(4):355-361. Epub 2019 Feb 27.

Institut für Humangenetik der Universitätsmedizin Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.

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April 2019

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.

Authors:
Sylvia Schucht Rebecca Minso Christiane Lex Jochen Reiss Frauke Stanke Stephanie Tamm Andrea van Barneveld Burkhard Tümmler

Mol Genet Genomic Med 2019 02 1;7(2):e00526. Epub 2019 Jan 1.

Clinical Research Group 'Molecular Pathology of Cystic Fibrosis', Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.

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February 2019

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Authors:
Simon Julius Mayr Jörn Oliver Sass Julia Vry Janbernd Kirschner Irina Mader Jan-Bernd Hövener Jochen Reiss José Angel Santamaria-Araujo Günter Schwarz Sarah Catharina Grünert

J Inherit Metab Dis 2018 03 24;41(2):187-196. Epub 2018 Jan 24.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.

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March 2018

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Authors:
Joanna Jakubiczka-Smorag Jose Angel Santamaria-Araujo Imke Metz Avadh Kumar Samy Hakroush Wolfgang Brueck Guenter Schwarz Peter Burfeind Jochen Reiss Lukasz Smorag

Hum Genet 2016 07 2;135(7):813-26. Epub 2016 May 2.

Institute of Human Genetics, University Medical Center Goettingen, Heinrich-Dueker-Weg 12, 37073, Goettingen, Germany.

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July 2016

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Authors:
Jochen Reiss Rita Hahnewald

Hum Mutat 2011 Jan;32(1):10-8

Institut für Humangenetik, Universitätsmedizin Göttingen, Germany.

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January 2011

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.

Authors:
Sintha D Sie Rogier C J de Jonge Henk J Blom Margot F Mulder Jochen Reiss R J Vermeulen Cacha M P C D Peeters-Scholte

J Inherit Metab Dis 2010 Dec 24;33 Suppl 3:S401-7. Epub 2010 Sep 24.

Department of Neonatology, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

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December 2010

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

Authors:
Alex Veldman José Angel Santamaria-Araujo Silvio Sollazzo James Pitt Robert Gianello Joy Yaplito-Lee Flora Wong Clive Andrew Ramsden Jochen Reiss Iain Cook Jon Fairweather Guenter Schwarz

Pediatrics 2010 May 12;125(5):e1249-54. Epub 2010 Apr 12.

Monash Newborn, Monash Medical Centre, Melbourne, Australia.

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May 2010

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Authors:
Jörn Oliver Sass Aysegul Gunduz Carolina Araujo Rodrigues Funayama Baris Korkmaz Kylvia Giselle Dantas Pinto Beyhan Tuysuz Letícia Yanasse Dos Santos Emine Taskiran Marlene de Fátima Turcato Ching-Wan Lam Jochen Reiss Melanie Walter Cengiz Yalcinkaya José Simon Camelo Junior

Brain Dev 2010 Aug 29;32(7):544-9. Epub 2009 Sep 29.

Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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August 2010

AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model.

Authors:
Rita Hahnewald Waja Wegner Jochen Reiss

Genet Vaccines Ther 2009 Jun 18;7. Epub 2009 Jun 18.

Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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June 2009

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

Authors:
Mercedes Serrano Isabel Lizarraga Jochen Reiss Anna Paula Dias Belén Pérez-Dueñas Maria Antonia Vilaseca Rafael Artuch Jaume Campistol Angels García-Cazorla

Pediatr Radiol 2007 Oct 18;37(10):1043-6. Epub 2007 Aug 18.

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Paseo de Sant Joan de Déu, 2 Esplugues de Llobregat, 08950 Barcelona, Spain.

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October 2007

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.

Authors:
Rita Hahnewald Silke Leimkühler Antonia Vilaseca Cecile Acquaviva-Bourdain Ulrike Lenz Jochen Reiss

Mol Genet Metab 2006 Nov 5;89(3):210-3. Epub 2006 Jun 5.

Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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November 2006

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

Authors:
Silke Leimkühler Mathilde Charcosset Philippe Latour Claude Dorche Soledad Kleppe Fernando Scaglia Irmina Szymczak Petra Schupp Rita Hahnewald Jochen Reiss

Hum Genet 2005 Oct 14;117(6):565-70. Epub 2005 Jul 14.

Institut für Biochemie und Biologie, Universität Potsdam, 14476 Potsdam, Germany.

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October 2005

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.

Authors:
Jochen Reiss Michael Bonin Herbert Schwegler Jörn Oliver Sass Enrico Garattini Silke Wagner Heon-Jin Lee Wolfgang Engel Olaf Riess Günter Schwarz

Mol Genet Metab 2005 May;85(1):12-20

Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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May 2005

Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.

Authors:
Claudia Günther Kirsten von Hadeln Tomas Müller-Thomsen Antonella Alberici Giuliano Binetti Christoph Hock Roger M Nitsch Gabriela Stoppe Jochen Reiss Andreas Gal Ulrich Finckh

Neurosci Lett 2004 Oct;369(3):219-23

Department of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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October 2004

Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.

Authors:
Günter Schwarz José Angel Santamaria-Araujo Stefan Wolf Heon-Jin Lee Ibrahim M Adham Hermann-Josef Gröne Herbert Schwegler Jörn Oliver Sass Tanja Otte Petra Hänzelmann Ralf R Mendel Wolfgang Engel Jochen Reiss

Hum Mol Genet 2004 Jun 28;13(12):1249-55. Epub 2004 Apr 28.

Institut für Pflanzenbiologie der Technischen Universität Braunschweig, Germany.

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June 2004

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.

Authors:
Jochen Reiss Jean L Johnson

Hum Mutat 2003 Jun;21(6):569-76

Institut für Humangenetik der Universitätskliniken Göttingen, Göttingen, Germany.

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June 2003

Molybdenum cofactor-deficient mice resemble the phenotype of human patients.

Authors:
Heon-Jin Lee Ibrahim M Adham Günter Schwarz Matthias Kneussel Jörn O Sass Wolfgang Engel Jochen Reiss

Hum Mol Genet 2002 Dec;11(26):3309-17

Institut für Humangenetik der Universität Göttingen, Göttingen, Germany.

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December 2002

The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

Authors:
Sigrid Gross-Hardt Jochen Reiss

Mol Genet Metab 2002 Aug;76(4):340-3

Institut für Medizinische Physik und Biophysik der Universität Münster, Robert-Koch-Strasse 31, Germany.

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August 2002