Research Topics
Species | J DeneckeSummaryCountry: Germany Publications
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Detail Information
Publications
Biomarkers and diagnosis of congenital disorders of glycosylationJonas Denecke
Department of Pediatrics, Rembrandtstraße 16 17, 18057 Rostock, Germany 00 49 381 4947060 00 49 381 4947051
Expert Opin Med Diagn 3:395-409. 2009..The apparent limitations of the methods used at present imply a necessity for new and broad diagnostic tools that comprise modern methodology to meet the requirements for screening tools...- Hypoglycosylation due to dolichol metabolism defectsJonas Denecke
Department of Pediatrics, University Hospital of Rostock, Rembrandtstrabetae 16 17, 18057 Rostock, Germany
Biochim Biophys Acta 1792:888-95. 2009..The present review summarizes the biosynthesis of dolichol-phosphate and the recycling pathway with respect to possible defects of the dolichol phosphate metabolism causing glycosylation defects in humans... - Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?Jonas Denecke
University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16 17, 18057 Rostock, Germany
Biochim Biophys Acta 1792:915-20. 2009..In this review biochemical and genetic data are discussed and diagnostic methods based on biochemical observations of the recent years are reviewed... - Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)Jonas Denecke
Department of Pediatrics, University Hospital of Munster, Albert Schweitzer Str 33, 48149, Munster, Germany
Glycoconj J 25:375-82. 2008..However, structural data of erythrocyte N-glycans implicate that CDA II is not a distinct glycosylation disorder but caused by a defect disturbing Golgi processing in erythroblasts... 
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPSJonas Denecke
Department of Pediatrics, University Hospital of Munster, Munster, Germany
Hum Mutat 27:524-31. 2006..The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder...- Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsJonas Denecke
Department of Pediatrics, University Hospital of Munster, 48149 Munster, Germany
Pediatr Res 58:248-53. 2005..Maternal or placental factors that partially compensate for the glycosylation defect in the fetal stage must be proposed and may be relevant for the therapy of these disorders in the future... - An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Jonas Denecke
Department of Pediatrics, University Hospital of Munster, Munster, Germany
Hum Mutat 23:477-86. 2004..The results presented in this work demonstrate that factors abrogating NMD of the ALG3 gene exists and that the ALG3 gene can serve as a valuable tool for further investigations of the regulation of NMD... - Falsification of tetrazolium dye (MTT) based cytotoxicity assay results due to mycoplasma contamination of cell culturesJ Denecke
University Hospital of Munster, Department of Pediatrics, Munster, Germany
Anticancer Res 19:1245-8. 1999..Differences decreased with decreasing drug doses and decreasing plated cell count. Our findings confirm the compelling need for periodical mycoplasma screening, especially when tetrazolium based cytotoxicity assay (MTT) are used... - [Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]J Denecke
Klinik und Poliklinik für Allgemeine Kinderheilkunde, Universitätsklinik Münster
Klin Padiatr 212:77-80. 2000..Total enteral nutrition of the 280 ml/kg/d he required failed even by nasogastric tube and percutaneous endoscopic gastrostomy. Additional fluid substitution by central venous catheter remained necessary. At the age of 7 month he died... - Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuriaJ Weglage
Department of Pediatrics, University of Munster, Germany
Ann Neurol 50:463-7. 2001..This observation may lead to individual dietary recommendations in the future... - Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adultsR Feldmann
Department of Pediatrics, University of Munster, Munster, Germany
J Inherit Metab Dis 28:445-55. 2005..Elevated phenylalanine concentrations seem to exert a global effect slowing performance speed. This effect is enduring in adolescence and early adulthood... - Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controlsJ Weglage
Department of Pediatrics, University of Munster, Germany
J Inherit Metab Dis 23:487-96. 2000..Thus, medical treatment should be accompanied by psychological support for the families... - Normal clinical outcome in untreated subjects with mild hyperphenylalaninemiaJ Weglage
Department of Pediatrics, University of Munster, Albert Schweitzer Str 33, 48129 Munster, Germany
Pediatr Res 49:532-6. 2001..Nevertheless, problems of maternal phenylketonuria should still be taken into account... - Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapiesT Marquardt
Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Str 33, 48149 Munster, Germany
Eur J Pediatr 162:359-79. 2003..Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended... - Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuriaJ Weglage
Department of Pediatrics, University of Munster, Munster, Germany
J Inherit Metab Dis 25:431-6. 2002..The results indicate that blood-brain barrier transport characteristics and the resultant brain phenylalanine levels are causative factors for the individual clinical outcome in PKU... - Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decayJ Haberle
Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde, Munster, Germany
J Inherit Metab Dis 26:601-5. 2003.... - Neurofibromatosis type 1: motor and cognitive function and T2-weighted MRI hyperintensitiesR Feldmann
Department of Pediatrics, University Hospital of Munster, Germany
Neurology 61:1725-8. 2003..More than 50% of patients with NF1 show focal areas of high signal intensity (T2H) on T2-weighted MRI of the brain. It has been hypothesized that T2H may be associated with the cognitive and motor problems... 
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)C Kranz
Klinik und Poliklinik für Kinderheilkunde, Munster, Germany
J Clin Invest 108:1613-9. 2001..This work provides a new clinical picture for another CDG that may involve synthesis of multiple types of glycoconjugates...- Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patientsJ Weglage
Department of Pediatrics, University Hospital of Munster, Germany
J Inherit Metab Dis 25:321-2. 2002..In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight)... - A vacuolar sorting domain may also influence the way in which proteins leave the endoplasmic reticulumK Törmäkangas
Centre for Plant Sciences, Leeds Institute for Plant Biotechnology and Agriculture, Faculty of Biological Sciences, The University of Leeds, Leeds LS2 9JT, United Kingdom
Plant Cell 13:2021-32. 2001..The relevance of these observations with respect to the bulk flow model of secretory protein synthesis is discussed... - Secretory bulk flow of soluble proteins is efficient and COPII dependentB A Phillipson
Centre for Plant Sciences, Leeds Institute for Plant Biotechnology and Agriculture, School of Biology, The University of Leeds, Leeds LS2 9JT, United Kingdom
Plant Cell 13:2005-20. 2001..The differences between the data on COPII transport obtained from these in vivo experiments and in vitro experiments conducted previously using yeast components are discussed...