Jochen Reiss

Universitätsmedizin Göttingen — Germany

Energy · Physical Sciences

28h-index4.0kcitations88works0.02yr avg
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Research Topics

Metalloenzymes and iron-sulfur proteins(27), Cystic Fibrosis Research Advances(24), RNA modifications and cancer(22), Neonatal Respiratory Health Research(17), Tracheal and airway disorders(11)

Publications88 total

Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
Human Genetics·2019· 4 cited
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del <i>CFTR</i> mutation genotype in human native colon
Molecular Genetics & Genomic Medicine·2019· 5 citedOpen Access
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Journal of Inherited Metabolic Disease·2018· 21 cited
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients
Human Genetics·2016· 18 cited
Molybdenum Cofactor and Sulfite Oxidase Deficiency
Journal of Postgenomics Drug & Biomarker Development·2016· 4 citedOpen Access
A GPHN point mutation leading to molybdenum cofactor deficiency
Clinical Genetics·2011· 35 cited
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
Human Mutation·2010· 165 citedOpen Access
Chronological changes of the amplitude‐integrated EEG in a neonate with molybdenum cofactor deficiency
Journal of Inherited Metabolic Disease·2010· 16 citedOpen Access
Contents
Brain and Development·2010Open Access
Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
PEDIATRICS·2010· 200 cited
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
Brain and Development·2009· 76 cited
Leitlinie zur Molekulargenetischen Diagnostik der Cystischen Fibrose
Medizinische Genetik·2009· 7 cited
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model
Genetic Vaccines and Therapy·2009· 9 citedOpen Access
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
Pediatric Radiology·2007· 15 cited
Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus–Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency
The American Journal of Human Genetics·2007· 62 citedOpen Access
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase
Molecular Genetics and Metabolism·2006· 21 citedOpen Access
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
Human Genetics·2005· 35 cited
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis
Molecular Genetics and Metabolism·2005· 38 cited
Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease
Neuroscience Letters·2004· 52 cited
Why is molybdenum essential for life? - Human genetic deficiencies and possible therapy
2004
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Frequent Co-authors

D.N. Cooper(11), C. Dorche(7), Ryszard Słomski(7), Günter Schwarz(6), M. T. Zabot(5), Lutz-Peter Berg(5), Rita Hahnewald(4), Ralf R. Mendel(4), Nadine Cohen(4), Manfred Stuhrmann(4), Frauke Rininsland(4), Michael Krawczak(3), José Angel Santamaria‐Araujo(3), Birgit Stallmeyer(3), Hanna Mandel(3), Jerzy Bal(3), J. Schmidtke(3), Ulrich Finckh(3), Tomas Müller‐Thomsen(3), Antonella Alberici(3)