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.

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.

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

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

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.

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

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

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.

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.

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

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

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.

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.

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