Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

Enriko D Klootwijk, Markus Reichold, Amanda Helip-Wooley, Asad Tolaymat, Carsten Broeker, Steven L Robinette, Joerg Reinders, Dominika Peindl, Kathrin Renner, Karin Eberhart, Nadine Assmann, Peter J Oefner, Katja Dettmer, Christina Sterner, Josef Schroeder, Niels Zorger, Ralph Witzgall, Stephan W Reinhold, Horia C Stanescu, Detlef BockenhauerGraciana Jaureguiberry, Holly Courtneidge, Andrew M Hall, Anisha D Wijeyesekera, Elaine Holmes, Jeremy K Nicholson, Kevin O'Brien, Isa Bernardini, Donna M Krasnewich, Mauricio Arcos-Burgos, Yuichiro Izumi, Hiroshi Nonoguchi, Yuzhi Jia, Janardan K Reddy, Mohammad Ilyas, Robert J Unwin, William A Gahl, Richard Warth, Robert Kleta

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown.
Original languageEnglish
Pages (from-to)129-138
Number of pages10
JournalThe New England Journal of Medicine
Volume370
Issue number2
DOIs
Publication statusPublished - 9 Jan 2014

Keywords

  • African Continental Ancestry Group
  • Amino Acid Sequence
  • Animals
  • Chromosomes, Human, Pair 3
  • Disease Models, Animal
  • Fanconi Syndrome
  • Female
  • Genetic Linkage
  • Humans
  • Kidney Tubules, Proximal
  • Male
  • Mice
  • Mice, Knockout
  • Mitochondria
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Peroxisomal Bifunctional Enzyme
  • Phenotype
  • Sequence Analysis, DNA

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  • Cite this

    Klootwijk, E. D., Reichold, M., Helip-Wooley, A., Tolaymat, A., Broeker, C., Robinette, S. L., Reinders, J., Peindl, D., Renner, K., Eberhart, K., Assmann, N., Oefner, P. J., Dettmer, K., Sterner, C., Schroeder, J., Zorger, N., Witzgall, R., Reinhold, S. W., Stanescu, H. C., ... Kleta, R. (2014). Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. The New England Journal of Medicine, 370(2), 129-138. https://doi.org/10.1056/NEJMoa1307581