U Felbor

Summary

Country: Germany

Publications

  1. pmc Neuronal loss and brain atrophy in mice lacking cathepsins B and L
    Ute Felbor
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 99:7883-8. 2002
  2. ncbi [Genetics of cerebral cavernous malformations (CCM)]
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Dtsch Med Wochenschr 132:1967-70. 2007
  3. pmc A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
    Axel Pagenstecher
    Department of Neuropathology, University of Marburg, Germany
    Hum Mol Genet 18:911-8. 2009
  4. pmc VEGF receptors on PC12 cells mediate transient activation of ERK1/2 and Akt: comparison of nerve growth factor and vascular endothelial growth factor
    Ingrid Berger
    Department of Human Genetics, University of Wurzburg, Germany
    J Negat Results Biomed 5:8. 2006
  5. ncbi Large germline deletions and duplication in isolated cerebral cavernous malformation patients
    U Felbor
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, 97074 Wurzburg, Germany
    Neurogenetics 8:149-53. 2007
  6. ncbi Genetics of cerebral cavernous angioma
    U Felbor
    Institut fur Humangenetik, Bayerische Julius Maximilians Universität Würzburg, Wurzburg, Germany
    Zentralbl Neurochir 67:110-6. 2006
  7. pmc Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1)
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    J Med Genet 35:641-5. 1998
  8. ncbi Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
    U Felbor
    Institute of Human Genetics, University Eye Hospital, University of Wurzburg, Germany
    Arch Ophthalmol 115:1569-71. 1997
  9. ncbi Allelic heterogeneity of alkaptonuria in Central Europe
    C R Muller
    Department of Human Genetics, University of Wurzburg, Biozentrum, Germany
    Eur J Hum Genet 7:645-51. 1999
  10. pmc A nonsense mutation in MSX1 causes Witkop syndrome
    D Jumlongras
    Department of Cell Biology, Brigham and Women s Hospital, Boston, MA, USA
    Am J Hum Genet 69:67-74. 2001

Collaborators

Detail Information

Publications27

  1. pmc Neuronal loss and brain atrophy in mice lacking cathepsins B and L
    Ute Felbor
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 99:7883-8. 2002
    ..Our data demonstrate a pivotal role for cathepsins B and L in maintenance of the central nervous system...
  2. ncbi [Genetics of cerebral cavernous malformations (CCM)]
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Dtsch Med Wochenschr 132:1967-70. 2007
  3. pmc A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
    Axel Pagenstecher
    Department of Neuropathology, University of Marburg, Germany
    Hum Mol Genet 18:911-8. 2009
    ....
  4. pmc VEGF receptors on PC12 cells mediate transient activation of ERK1/2 and Akt: comparison of nerve growth factor and vascular endothelial growth factor
    Ingrid Berger
    Department of Human Genetics, University of Wurzburg, Germany
    J Negat Results Biomed 5:8. 2006
    ..In direct comparison, nerve growth factor proved to be a strikingly more potent neuroprotective agent than VEGF...
  5. ncbi Large germline deletions and duplication in isolated cerebral cavernous malformation patients
    U Felbor
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, 97074 Wurzburg, Germany
    Neurogenetics 8:149-53. 2007
    ..Consequently, systematic screening for CCM deletions/duplications is recommended...
  6. ncbi Genetics of cerebral cavernous angioma
    U Felbor
    Institut fur Humangenetik, Bayerische Julius Maximilians Universität Würzburg, Wurzburg, Germany
    Zentralbl Neurochir 67:110-6. 2006
    ....
  7. pmc Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1)
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    J Med Genet 35:641-5. 1998
    ..However, as the autosomal dominant Stargardt-like macular dystrophies are genetically heterogeneous, other forms of this disorder, in particular STGD3 previously linked to 6q, may be caused by mutations in IMPG1...
  8. ncbi Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
    U Felbor
    Institute of Human Genetics, University Eye Hospital, University of Wurzburg, Germany
    Arch Ophthalmol 115:1569-71. 1997
    ..In addition, we have reevaluated the question of variable SFD phenotypes by analyzing the available clinical data on carriers of the Ser181Cys mutation...
  9. ncbi Allelic heterogeneity of alkaptonuria in Central Europe
    C R Muller
    Department of Human Genetics, University of Wurzburg, Biozentrum, Germany
    Eur J Hum Genet 7:645-51. 1999
    ....
  10. pmc A nonsense mutation in MSX1 causes Witkop syndrome
    D Jumlongras
    Department of Cell Biology, Brigham and Women s Hospital, Boston, MA, USA
    Am J Hum Genet 69:67-74. 2001
    ....
  11. pmc Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Am J Hum Genet 60:57-62. 1997
    ..Considering all available data, we suggest that SFD is a genetically homogeneous, autosomal dominant condition...
  12. ncbi Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies
    U Felbor
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Wurzburg Germany
    Cytogenet Cell Genet 81:12-7. 1998
    ....
  13. ncbi Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Hum Mutat 10:301-9. 1997
    ..In addition, this study shows that the variable phenotypes in AVMD are due, at least in part, to genetic heterogeneity and are likely to be caused by mutations in disease genes thus far unknown...
  14. ncbi Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation
    U Felbor
    Department of Human Genetics, University of Wurzburg, Biozentrum, Wurzburg, Germany
    Cytogenet Genome Res 106:55-60. 2004
    ..A subtelomeric probe for 8p revealed a cryptic deletion in 8ps and der(8). Thus, the karyotype represents a combination of submicroscopic partial monosomy 8pter and mosaic trisomy 8...
  15. pmc Secreted cathepsin L generates endostatin from collagen XVIII
    U Felbor
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    EMBO J 19:1187-94. 2000
    ..We propose that cleavage within collagen XVIII's protease-sensitive region evolved to regulate excessive proteolysis in conditions of induced angiogenesis...
  16. pmc A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
    U Felbor
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    J Med Genet 33:233-6. 1996
    ..In addition, all known mutations cause a change of an amino acid to a cysteine residue. This suggests a critical role for the additional C-terminal free thiol group in SFD pathogenesis...
  17. ncbi The rare human fragile site 16B
    U Felbor
    Institut fur Humangenetik, Biozentrum, Wurzburg, Germany
    Cytogenet Genome Res 100:85-8. 2003
    ..These interindividually variable, extremely large repeat expansions of 15-70 kb in size do not seem to interfere with the expression of genes essential for human development since heterozygotes and homozygotes for FRA16B are normal...
  18. pmc Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
    U Felbor
    Augenklinik, Universitat Wurzburg, Wurzburg, Germany
    Br J Ophthalmol 83:680-3. 1999
    ..To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea...
  19. ncbi Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    B H Weber
    Institut fur Humangenetik, Biozentrum, Wurzburg, Germany
    Nat Genet 8:352-6. 1994
    ..We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein...
  20. doi Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
    Sonja Stahl
    Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Hum Mutat 29:709-17. 2008
    ..These data are in agreement with a loss-of-function mechanism for CCM mutations, uncover an N-terminal CCM2 domain required for CCM1 binding, and demonstrate full-length CCM2 as the essential core protein in the CCM1/CCM2/CCM3 complex...
  21. ncbi Proteomic analysis of cathepsin B- and L-deficient mouse brain lysosomes
    Sonja Stahl
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074 Wurzburg, Germany
    Biochim Biophys Acta 1774:1237-46. 2007
    ....
  22. ncbi CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations
    Katrin Voss
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, 97074 Wurzburg, Germany
    Neurogenetics 8:249-56. 2007
    ..Thus, our data link two proteins of unknown function, CCM3 and STK25, with CCM2, which is part of signaling pathways essential for vascular development and CCM pathogenesis...
  23. ncbi CCM1 gene deletion identified by MLPA in cerebral cavernous malformation
    Sabine Gaetzner
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, 97074 Wurzburg, Germany
    Neurosurg Rev 30:155-9; discussion 159-60. 2007
    ..Our results confirm a loss-of-function mutation mechanism for CCM1 and demonstrate that the use of MLPA enables a higher CCM mutation detection rate which is crucial for predictive testing of at-risk relatives...
  24. ncbi Clinical impact of CCM mutation detection in familial cavernous angioma
    Oguzkan Sürücü
    Department of Neurosurgery, Philipps University Marburg, Baldingerstrasse, 35033, Marburg, Germany
    Childs Nerv Syst 22:1461-4. 2006
    ..This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases...
  25. ncbi Endosomal proteolysis of the Ebola virus glycoprotein is necessary for infection
    Kartik Chandran
    Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Science 308:1643-5. 2005
    ..CatB and CatB/CatL inhibitors diminish the multiplication of infectious EboV-Zaire in cultured cells and may merit investigation as anti-EboV drugs...
  26. ncbi Sensitization to the lysosomal cell death pathway upon immortalization and transformation
    Nicole Fehrenbacher
    Apoptosis Department, Institute for Cancer Biology, Danish Cancer Society, Strandboulevarden 49, DK 2100 Copenhagen, Denmark
    Cancer Res 64:5301-10. 2004
    ..Thus, tumorigenesis-associated changes in lysosomes may counteract cancer progression and enhance therapeutic responses by sensitizing cells to programmed cell death...
  27. ncbi Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development
    Natalia Rychkova
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074 Wurzburg, Germany
    Dev Dyn 232:399-407. 2005
    ..Our data provide strong evidence that collagen XVIII's C-terminal endostatin domain harbors a prominent tissue-binding site and that binding can occur in the absence of heparan sulfates in situ...