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

Detail Information

Publications7

  1. ncbi 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. ncbi 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 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. ncbi 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 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. ncbi 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...