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Enriko Klootwijk
Researcher at University College London
Publications - 23
Citations - 1084
Enriko Klootwijk is an academic researcher from University College London. The author has contributed to research in topics: Mannosamine & Fanconi syndrome. The author has an hindex of 13, co-authored 21 publications receiving 890 citations. Previous affiliations of Enriko Klootwijk include Government of the United States of America.
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Journal ArticleDOI
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Detlef Bockenhauer,Sally Feather,Horia Stanescu,Sascha Bandulik,Anselm A. Zdebik,Markus Reichold,Jonathan Tobin,E Lieberer,Christina Sterner,Guida Landouré,Ruchi Arora,Tony Sirimanna,Dorothy A. Thompson,J. Helen Cross,William van’t Hoff,Omar Al Masri,Kjell Tullus,Stella Yeung,Yair Anikster,Enriko Klootwijk,Mike Hubank,Michael J. Dillon,Dirk Heitzmann,Mauricio Arcos-Burgos,Mark A Knepper,Angus Dobbie,William A. Gahl,Richard Warth,Eamonn Sheridan,Robert Kleta +29 more
TL;DR: In this paper, the authors investigated the genetic basis of this autosomal recessive disease, which they call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy).
Journal ArticleDOI
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
Enriko 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 Stanescu,Horia Stanescu,Detlef Bockenhauer,Graciana Jaureguiberry,Holly Courtneidge,Andrew M. Hall,Anisha 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,Robert Kleta +40 more
TL;DR: Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function.
Journal ArticleDOI
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Oscar Rubio Cabezas,Sarah E. Flanagan,Horia Stanescu,Elena García-Martínez,Richard Caswell,Hana Lango-Allen,Montserrat Antón-Gamero,Jesús Argente,Anna Marie Bussell,André W. Brändli,Chris Cheshire,Elizabeth Crowne,Simona Dumitriu,R. Drynda,Julian P Hamilton-Shield,Wesley Hayes,Alexis Hofherr,Daniela Iancu,Naomi Issler,Craig Jefferies,Peter B. Jones,Matthew B. Johnson,Anne Kesselheim,Enriko Klootwijk,Michael Koettgen,Wendy Lewis,José María Martos,Monika Mozere,Jill T. Norman,Vaksha Patel,Andrew Parrish,Celia Pérez-Cerdá,Jesús Pozo,Sofia A. Rahman,Neil J. Sebire,Neil J. Sebire,Mehmet Tekman,Peter D. Turnpenny,William van’t Hoff,Daan H H M Viering,Michael N. Weedon,Patricia D. Wilson,Lisa M. Guay-Woodford,Robert Kleta,Robert Kleta,Khalid Hussain,Khalid Hussain,Sian Ellard,Detlef Bockenhauer,Detlef Bockenhauer +49 more
TL;DR: It is proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM 2 leading to the restricted phenotype of HIPKD.
Journal ArticleDOI
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Graciana Jaureguiberry,Muriel De La Dure-Molla,David A. Parry,Mickael Quentric,Nina Himmerkus,Toshiyasu Koike,James A. Poulter,Enriko Klootwijk,Steven L. Robinette,Alexander J. Howie,Vaksha Patel,Marie Lucile Figueres,Horia Stanescu,Naomi Issler,Jeremy K. Nicholson,Detlef Bockenhauer,Chris Laing,Stephen B. Walsh,David A. McCredie,Sue Povey,Audrey Asselin,Arnaud Picard,Aurore Coulomb,Alan Medlar,Isabelle Bailleul-Forestier,Alain Verloes,Cédric Le Caignec,Gwenaelle Roussey,Julien Guiol,Bertrand Isidor,Clare V. Logan,Roger C. Shore,Colin A. Johnson,Chris F. Inglehearn,Suhaila Al-Bahlani,Matthieu Schmittbuhl,François Clauss,Mathilde Huckert,Virginie Laugel,Emmanuelle Ginglinger,Sandra Pajarola,Giuseppina Spartà,Deborah Bartholdi,Anita Rauch,Marie-Claude Addor,Paulo Marcio Yamaguti,H.P.N. Safatle,Ana Carolina Acevedo,Hercílio Martelli-Júnior,Pedro E. Dos Santos Netos,Ricardo D. Coletta,Sandra Gruessel,Carolin Sandmann,Denise Ruehmann,Craig B. Langman,Steven J. Scheinman,Didem Ozdemir-Ozenen,Thomas C. Hart,P. Suzanne Hart,Ute Neugebauer,Eberhard Schlatter,Pascal Houillier,William A. Gahl,Miikka Vikkula,Agnès Bloch-Zupan,Markus Bleich,Hiroshi Kitagawa,Robert J. Unwin,Alan J. Mighell,Ariane Berdal,Robert Kleta +70 more
TL;DR: This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta and it is speculated that all individuals with biallelic FAM 20A mutations will eventually show neph reciprocalcinosis.
Journal ArticleDOI
Renal Fanconi syndrome: taking a proximal look at the nephron
Enriko Klootwijk,Markus Reichold,Robert J. Unwin,Robert Kleta,Richard Warth,Detlef Bockenhauer +5 more
TL;DR: The discovery of this novel disease mechanism not only confirmed the importance of mitochondrial function for PT transport, but also demonstrated the critical dependence of PT on fatty acid metabolism for energy generation.