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; 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

doi:10.1056/NEJMoa1307581

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

Applied Medicine

Research output: Contribution to journal › Article › peer-review

88 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 language	English
Pages (from-to)	129-138
Number of pages	10
Journal	The New England Journal of Medicine
Volume	370
Issue number	2
DOIs	https://doi.org/10.1056/NEJMoa1307581
Publication status	Published - 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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1056/NEJMoa1307581

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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

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

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title = "Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome",

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.",

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",

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

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AU - Reichold, Markus

AU - Helip-Wooley, Amanda

AU - Tolaymat, Asad

AU - Broeker, Carsten

AU - Robinette, Steven L

AU - Reinders, Joerg

AU - Peindl, Dominika

AU - Renner, Kathrin

AU - Eberhart, Karin

AU - Assmann, Nadine

AU - Oefner, Peter J

AU - Dettmer, Katja

AU - Sterner, Christina

AU - Schroeder, Josef

AU - Zorger, Niels

AU - Witzgall, Ralph

AU - Reinhold, Stephan W

AU - Stanescu, Horia C

AU - Bockenhauer, Detlef

AU - Jaureguiberry, Graciana

AU - Courtneidge, Holly

AU - Hall, Andrew M

AU - Wijeyesekera, Anisha D

AU - Holmes, Elaine

AU - Nicholson, Jeremy K

AU - O'Brien, Kevin

AU - Bernardini, Isa

AU - Krasnewich, Donna M

AU - Arcos-Burgos, Mauricio

AU - Izumi, Yuichiro

AU - Nonoguchi, Hiroshi

AU - Jia, Yuzhi

AU - Reddy, Janardan K

AU - Ilyas, Mohammad

AU - Unwin, Robert J

AU - Gahl, William A

AU - Warth, Richard

AU - Kleta, Robert

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AB - 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.

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KW - Amino Acid Sequence

KW - Animals

KW - Chromosomes, Human, Pair 3

KW - Disease Models, Animal

KW - Fanconi Syndrome

KW - Female

KW - Genetic Linkage

KW - Humans

KW - Kidney Tubules, Proximal

KW - Male

KW - Mice

KW - Mice, Knockout

KW - Mitochondria

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Pedigree

KW - Peroxisomal Bifunctional Enzyme

KW - Phenotype

KW - Sequence Analysis, DNA

U2 - 10.1056/NEJMoa1307581

DO - 10.1056/NEJMoa1307581

M3 - Article

C2 - 24401050

SN - 0028-4793

VL - 370

SP - 129

EP - 138

JO - The New England Journal of Medicine

JF - The New England Journal of Medicine

IS - 2

ER -

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

Abstract

Keywords

UN SDGs

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