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 Bockenhauer & 19 others Graciana 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

47 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

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Fanconi Syndrome
Electrolytes
Molecular Weight
Kidney
Food
Water

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

Cite this

Klootwijk, E. D., Reichold, M., Helip-Wooley, A., Tolaymat, A., Broeker, C., Robinette, S. L., ... 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

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

In: The New England Journal of Medicine, Vol. 370, No. 2, 09.01.2014, p. 129-138.

Research output: Contribution to journalArticle

Klootwijk, ED, Reichold, M, Helip-Wooley, A, Tolaymat, A, Broeker, C, Robinette, SL, Reinders, J, Peindl, D, Renner, K, Eberhart, K, Assmann, N, Oefner, PJ, Dettmer, K, Sterner, C, Schroeder, J, Zorger, N, Witzgall, R, Reinhold, SW, Stanescu, HC, Bockenhauer, D, Jaureguiberry, G, Courtneidge, H, Hall, AM, Wijeyesekera, AD, Holmes, E, Nicholson, JK, O'Brien, K, Bernardini, I, Krasnewich, DM, Arcos-Burgos, M, Izumi, Y, Nonoguchi, H, Jia, Y, Reddy, JK, Ilyas, M, Unwin, RJ, Gahl, WA, Warth, R & Kleta, R 2014, 'Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome', The New England Journal of Medicine, vol. 370, no. 2, pp. 129-138. https://doi.org/10.1056/NEJMoa1307581
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. The New England Journal of Medicine. 2014 Jan 9;370(2):129-138. https://doi.org/10.1056/NEJMoa1307581
Klootwijk, Enriko D ; Reichold, Markus ; Helip-Wooley, Amanda ; Tolaymat, Asad ; Broeker, Carsten ; Robinette, Steven L ; Reinders, Joerg ; Peindl, Dominika ; Renner, Kathrin ; Eberhart, Karin ; Assmann, Nadine ; Oefner, Peter J ; Dettmer, Katja ; Sterner, Christina ; Schroeder, Josef ; Zorger, Niels ; Witzgall, Ralph ; Reinhold, Stephan W ; Stanescu, Horia C ; Bockenhauer, Detlef ; Jaureguiberry, Graciana ; Courtneidge, Holly ; Hall, Andrew M ; Wijeyesekera, Anisha D ; Holmes, Elaine ; Nicholson, Jeremy K ; O'Brien, Kevin ; Bernardini, Isa ; Krasnewich, Donna M ; Arcos-Burgos, Mauricio ; Izumi, Yuichiro ; Nonoguchi, Hiroshi ; Jia, Yuzhi ; Reddy, Janardan K ; Ilyas, Mohammad ; Unwin, Robert J ; Gahl, William A ; Warth, Richard ; Kleta, Robert. / Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. In: The New England Journal of Medicine. 2014 ; Vol. 370, No. 2. pp. 129-138.
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