Miriam Schmidts

Summary

Affiliation: Molecular Medicine Unit, Institute of Child Health, UCL
Location: London, UK
Summary:
Cilia
PCD
Podocyte
Nephrology
Genetics
Pediatrics

Publications

  1. ncbi request reprint The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1
    Tobias B Huber
    Renal Division, University Hospital Freiburg, Hugstetter Str 55, 79106 Freiburg, Germany
    J Biol Chem 278:13417-21. 2003
  2. pmc Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling
    Tobias B Huber
    Renal Division Molecular Medicine, University Hospital Freiburg, D 79106 Freiburg, Germany
    Mol Cell Biol 23:4917-28. 2003
  3. ncbi request reprint Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
    Tobias B Huber
    Renal Division, University Hospital Freiburg, Germany
    Hum Mol Genet 12:3397-405. 2003
  4. pmc Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
    Niki Tomas Loges
    Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany
    Am J Hum Genet 85:883-9. 2009
  5. ncbi request reprint D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome
    Sarah Grünert
    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany
    J Pediatr Gastroenterol Nutr 50:106-7. 2010
  6. pmc CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
    Anne Christine Merveille
    Unit of Animal Genomics, Groupe Interdisciplinaire de Genomique Appliquee Recherche GIGA R and Faculty of Veterinary Medicine, University of Liège B34, Liege, Belgium
    Nat Genet 43:72-8. 2011

Collaborators

  • Maimoona A Zariwala
  • Thomas Benzing
  • Bernhard Schermer
  • Heymut Omran
  • Christoph Borner
  • Michael R Knowles
  • Estelle Escudier
  • Jorn Oliver Sass
  • Cecile Clercx
  • Margaret W Leigh
  • Nicholas Katsanis
  • Andrey S Shaw
  • KENT HILL
  • Moin A Saleem
  • Tobias B Huber
  • Niki Tomas Loges
  • Anne Christine Merveille
  • Anita Becker-Heck
  • Heike Olbrich
  • Sarah Grünert
  • Andreas Kispert
  • Hanswalter Zentgraf
  • Gerd Walz
  • Björn Hartleben
  • Nicole Beydon
  • Serge Amselem
  • Andre Coste
  • Gilles Roger
  • Anne Sophie Lequarre
  • RACHELLE CROSBIE
  • Philippe Duquesnoy
  • John Belmont
  • Jocelyne Just
  • Erica E Davis
  • Marie Legendre
  • Yukihide Momozawa
  • Stephane Deleuze
  • Kim G Nielsen
  • Jeffrey A Towbin
  • Géraldine Bataille
  • Michel Georges
  • Guy Montantin
  • Manfred Fliegauf
  • Mark Jorissen
  • Diana Zelenika
  • Judith Horvath
  • Henrique Tenreiro
  • Jean François Papon
  • Jacques de Blic
  • Denise Escalier
  • Frédéric Billen
  • Annick Clement
  • Mark Lathrop
  • Isabelle Rayet
  • Israel Amirav
  • June K Marthin
  • Sybille Kenzel
  • Peter Greiner
  • Martin Pohl
  • Roland Hentschel
  • Horst Seithe
  • Angelina Heer
  • Christina Reinhard
  • Gudrun Nurnberg
  • Richard Reinhardt
  • Peter Nurnberg
  • Karsten Haffner
  • Matias Simons
  • Lotti Egger
  • Rachel L Lecha
  • Jeong Kim
  • Leonie Sernetz
  • Enken Gundlach
  • Peter Gerke
  • Hermann Pavenstadt
  • Lorenz Sellin
  • Anne Zahn
  • Alexander Keil

Detail Information

Publications7

  1. ncbi request reprint The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1
    Tobias B Huber
    Renal Division, University Hospital Freiburg, Hugstetter Str 55, 79106 Freiburg, Germany
    J Biol Chem 278:13417-21. 2003
    ..Thus, our data suggest that ZO-1 may organize Neph proteins and recruit signal transduction components to the slit diaphragm of podocytes...
  2. pmc Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling
    Tobias B Huber
    Renal Division Molecular Medicine, University Hospital Freiburg, D 79106 Freiburg, Germany
    Mol Cell Biol 23:4917-28. 2003
    ....
  3. ncbi request reprint Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
    Tobias B Huber
    Renal Division, University Hospital Freiburg, Germany
    Hum Mol Genet 12:3397-405. 2003
    ..Our findings demonstrate that the failure of mutant podocin to recruit nephrin into lipid rafts may be essential for the pathogenesis of NPHS2...
  4. pmc Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
    Niki Tomas Loges
    Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany
    Am J Hum Genet 85:883-9. 2009
    ..On the basis of these findings, we assume that LRRC50 plays a role in assembly of distinct dynein-arm complexes...
  5. ncbi request reprint D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome
    Sarah Grünert
    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany
    J Pediatr Gastroenterol Nutr 50:106-7. 2010
  6. pmc CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
    Anne Christine Merveille
    Unit of Animal Genomics, Groupe Interdisciplinaire de Genomique Appliquee Recherche GIGA R and Faculty of Veterinary Medicine, University of Liège B34, Liege, Belgium
    Nat Genet 43:72-8. 2011
    ..Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex...