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MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Authors
  • Mele, Caterina
  • Iatropoulos, Paraskevas
  • Donadelli, Roberta
  • Calabria, Andrea
  • Maranta, Ramona
  • Cassis, Paola
  • Buelli, Simona
  • Tomasoni, Susanna
  • Piras, Rossella
  • Krendel, Mira
  • Bettoni, Serena
  • Morigi, Marina
  • Delledonne, Massimo
  • Pecoraro, Carmine
  • Abbate, Isabella
  • Capobianchi, Maria Rosaria
  • Hildebrandt, Friedhelm
  • Otto, Edgar
  • Schaefer, Franz
  • Macciardi, Fabio
  • And 7 more
Type
Published Article
Journal
New England Journal of Medicine
Publisher
New England Journal of Medicine
Publication Date
Jul 28, 2011
Volume
365
Issue
4
Pages
295–306
Identifiers
DOI: 10.1056/NEJMoa1101273
PMID: 21756023
Source
Medline
License
Unknown

Abstract

MYO1E mutations are associated with childhood-onset, glucocorticoid-resistant focal segmental glomerulosclerosis. Our data provide evidence of a role of Myo1E in podocyte function and the consequent integrity of the glomerular filtration barrier.

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