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Erik-Jan Kamsteeg

Research Profile

Chemicals & Drugs

Disorders

Nephrogenic Diabetes Insipidus

Physiology

Anatomy

Living Beings

Xenopus laevis

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Phosphorylation

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Molecular Sequence Data

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Publications

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Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Richard H Roxburgh; Koen L van Gassen; Renate Marquis-Nicholson; Stuart Mossman; Fern Ashton; Thomas Bird; David Eccles; Alice M George; Erik-Jan Kamsteeg; Rod A Lea; Donald R Love
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Lysa Boissé Lomax; Mark A Corbett; Irenaeus F de Coo; Leanne M Dibbens; Luke C Gandolfo; Jozef Gecz; Helle Hjalgrim; Erik-Jan Kamsteeg; G Christoph Korenke; Anna-Elina Lehesjoki; Iris Marquardt; Rikke S Møller; John D O'Sullivan; Trine Prescott; Magnhild Rasmussen; Ines Said; Asbjørg Stray-Pedersen; Danya F Vears; Judith M A Verhagen; Annemarie M Vlaar; Michèl Willemsen; Kari M Aaberg; Melanie Bahlo; Marta A Bayly; Bastiaan R Bloem; Samuel F Berkovic
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

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All Publications

2013: Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Human molecular genetics 2013;22(9):1746-54.
2013: Richard H Roxburgh; Koen L van Gassen; Renate Marquis-Nicholson; Stuart Mossman; Fern Ashton; Thomas Bird; David Eccles; Alice M George; Erik-Jan Kamsteeg; Rod A Lea; Donald R Love
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Journal of neurology 2013;260(5):1286-94.
2013: Lysa Boissé Lomax; Mark A Corbett; Irenaeus F de Coo; Leanne M Dibbens; Luke C Gandolfo; Jozef Gecz; Helle Hjalgrim; Erik-Jan Kamsteeg; G Christoph Korenke; Anna-Elina Lehesjoki; Iris Marquardt; Rikke S Møller; John D O'Sullivan; Trine Prescott; Magnhild Rasmussen; Ines Said; Asbjørg Stray-Pedersen; Danya F Vears; Judith M A Verhagen; Annemarie M Vlaar; Michèl Willemsen; Kari M Aaberg; Melanie Bahlo; Marta A Bayly; Bastiaan R Bloem; Samuel F Berkovic
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Brain : a journal of neurology 2013;136(Pt 4):1146-54.
2013: S T de Bot; Erik-Jan Kamsteeg; H P H Kremer; A R Mensenkamp; Hans Scheffer; Leonard H Van den Berg; Jan Veldink; Sascha Vermeer; Frans Brugman; Bart P C van de Warrenburg
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Journal of neurology 2013;260(3):869-75.
2012: Susanne T de Bot; Erik-Jan Kamsteeg; H Jurgen Schelhaas; Bart P C van de Warrenburg
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
Brain : a journal of neurology 2012;135(Pt 12):e223; author reply e224.
2012: Erik-Jan Kamsteeg; Wolfram Kress; Michael F Buckley; Claudio Catalli; Jens M Hertz; Marianne Schwartz; Baziel G M van Engelen; Martina Witsch-Baumgartner; Hans Scheffer
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
European journal of human genetics : EJHG 2012;20(12):1203-8.
2012: Nicol C Voermans; Toin H van Kuppevelt; Gaetano Vattemi; Gea Drost; F Gualandi; V Guglielmi; Erik-Jan Kamsteeg; A E Laan; Martin Lammens; Arie Oosterhof; C Scotton; L van den Heuvel; B G M van Engelen
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
Neuromuscular disorders : NMD 2012;22(11):944-54.
2012: Koen L I van Gassen; Jan H Veldink; Corien C Verschuuren-Bemelmans; Leonard H van den Berg; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Erik-Jan Kamsteeg; H P H Kremer; Hans Scheffer; Bart P C van de Warrenburg
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain : a journal of neurology 2012;135(Pt 10):2994-3004.
2012: Simon T Cliffe; Christian Gilissen; Erik-Jan Kamsteeg; Gérard Lefranc; Robert Lindeman; André Megarbané; Siraj Misbah; Despina Moshous; Peck Y Ong; Umaimainthan Palendira; Janine Reichenbach; Ezia Ruga; Uli Salzer; Polina Stepensky; Santi Suryani; Stuart G Tangye; Antonino Trizzino; Brynn K Wainstein; Melanie Wong; John B Ziegler; Mario Abinun; Carlo Akatcherian; Danielle T Avery; Donald B Bloch; Michael F Buckley; Joseph A Church; Tony Roscioli
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
The Journal of allergy and clinical immunology 2012;130(3):735-742.e6.
2012: C W Ockeloen; Rolph Pfundt; P B Agrawal; A H Beggs; A Dara Hama-Amin; A Diekstra; H Jacobus Gilhuis; Erik-Jan Kamsteeg; N V A M Knoers; Martin Lammens; Nens van Alfen
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Neuromuscular disorders : NMD 2012;22(7):632-9.
2012: Nicol C Voermans; Baziel G van Engelen; Fred van Ruissen; Brigitte H W Faas; Anneke A Gabreëls-Festen; Henry Houlden; Erik-Jan Kamsteeg; Tjitske Kleefstra; Matilde Laurá; Amelie Pandraud; James M Polke; Mary M Reilly
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
Journal of the peripheral nervous system : JPNS 2012;17(2):223-5.
2012: Gwendolyn Gramer; Erik-Jan Kamsteeg; René Santer; Daniel Vater; Ron A Wevers; Nicole I Wolf; Thomas Bast; Friedrich Ebinger
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Neuropediatrics 2012;43(3):168-71.
2011: Nine Vam Knoers; Olivier Devuyst; Erik-Jan Kamsteeg
Clinical utility gene card for: Gitelman syndrome.
European journal of human genetics : EJHG 2011;19(8):.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: Mariken Ruiter; Erik-Jan Kamsteeg; Germana Meroni; Bert B A de Vries
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.
Clinical dysmorphology 2010;19(4):195-7.
2010: Benjamin Ko; Erik-Jan Kamsteeg; Leslie L Cooke; Lauren N Moddes; Peter M T Deen; Robert S Hoover
RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter.
American journal of physiology. Renal physiology 2010;299(2):F300-9.
2009: Erik-Jan Kamsteeg; Monique Stoffels; Grazia Tamma; Irene B M Konings; Peter M T Deen
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
Human mutation 2009;30(10):1387-96.
2009: Paul J M Savelkoul; Fabrizio De Mattia; Yuedan Li; Erik-Jan Kamsteeg; Irene B M Konings; Peter van Der Sluijs; Peter M T Deen
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
Human mutation 2009;30(10):E891-903.
2009: Simon T Cliffe; Jamie M Kramer; Khalid Hussain; Joris H Robben; Eiko K de Jong; Arjan P de Brouwer; Esther Nibbeling; Erik-Jan Kamsteeg; Melanie Wong; Julie Prendiville; Chela T James; Raja Padidela; Charlie Becknell; Hans van Bokhoven; Peter M T Deen; Raoul Hennekam; Robert Lindeman; Annette Schenck; Tony Roscioli; Michael F Buckley
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Human molecular genetics 2009;18(12):2257-65.
2009: Bas W M Van Balkom; Michelle Boone; Giel Hendriks; Erik-Jan Kamsteeg; Joris H Robben; H Christiaan Stronks; Anne van der Voorde; Francois van Herp; Peter van der Sluijs; Peter M T Deen
LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.
Journal of the American Society of Nephrology : JASN 2009;20(5):990-1001.
2008: Daohong Lin; Erik-Jan Kamsteeg; Yan Zhang; Yan Jin; Hyacinth Sterling; Peng Yue; Marcel Roos; Amy Duffield; Joanna Spencer; Michael Caplan; Wen-Hui Wang
Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels.
The Journal of biological chemistry 2008;283(12):7674-81.
2008: Erik-Jan Kamsteeg; Paul J M Savelkoul; Giel Hendriks; Irene B M Konings; Nicole M I Nivillac; Anne Karine Lagendijk; Peter van Der Sluijs; Peter M T Deen
Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
Pflügers Archiv : European journal of physiology 2008;455(6):1041-54.
2007: Erik-Jan Kamsteeg; Amy Duffield; Irene B M Konings; Joanna Spencer; Philipp Pagel; Peter M T Deen; Michael J Caplan
MAL decreases the internalization of the aquaporin-2 water channel.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(42):16696-701.
2007: Michael J Caplan; Erik-Jan Kamsteeg; Amy Duffield
Tetraspan proteins: regulators of renal structure and function.
Current opinion in nephrology and hypertension 2007;16(4):353-8.
2006: Erik-Jan Kamsteeg; Giel Hendriks; Michelle Boone; Irene B M Konings; Viola Oorschot; Peter van Der Sluijs; Judith Klumperman; Peter M T Deen
Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(48):18344-9.
2006: Yuedan Li; Stephen Shaw; Erik-Jan Kamsteeg; Alain Vandewalle; Peter M T Deen
Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity.
Journal of the American Society of Nephrology : JASN 2006;17(4):1063-72.
2005: Fabrizio De Mattia; Paul J M Savelkoul; Erik-Jan Kamsteeg; Irene B M Konings; Peter van Der Sluijs; Rudolf Mallmann; Alexander Oksche; Peter M T Deen
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN 2005;16(10):2872-80.
2004: Fabrizio De Mattia; Paul J M Savelkoul; Daniel G Bichet; Erik-Jan Kamsteeg; Irene B M Konings; Nannette Marr; Marie-Françoise Arthus; Michèle Lonergan; Carel H van Os; Peter van Der Sluijs; Gray L Robertson; Peter M T Deen
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
Human molecular genetics 2004;13(24):3045-56.
2003: Amy Duffield; Erik-Jan Kamsteeg; Andrea N Brown; Philipp Pagel; Michael J Caplan
The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(26):15560-5.
2003: Erik-Jan Kamsteeg; Daniel G Bichet; Irene B M Konings; Hubert Nivet; Michèle Lonergan; Marie-Françoise Arthus; Carel H van Os; Peter M T Deen
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
The Journal of cell biology 2003;163(5):1099-109.
2002: Peter M T Deen; Bas W M Van Balkom; Paul J M Savelkoul; Erik-Jan Kamsteeg; Marcel Van Raak; Michael L Jennings; Theodoor R Muth; Vazhaikkurichi M Rajendran; Michael J Caplan
Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane.
American journal of physiology. Renal physiology 2002;282(2):F330-40.
2001: Erik-Jan Kamsteeg; Peter M T Deen
Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity.
Biochemical and biophysical research communications 2001;282(3):683-90.
2001: Nannette Marr; Erik-Jan Kamsteeg; Marcel Van Raak; Carel H van Os; Peter M T Deen
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
Pflügers Archiv : European journal of physiology 2001;442(1):73-7.
2000: Erik-Jan Kamsteeg; I Heijnen; Carel H van Os; Peter M T Deen
The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.
The Journal of cell biology 2000;151(4):919-30.
2000: Peter M T Deen; Nannette Marr; Erik-Jan Kamsteeg; Bas W M Van Balkom
Nephrogenic diabetes insipidus.
Current opinion in nephrology and hypertension 2000;9(6):591-5.
2000: Erik-Jan Kamsteeg; Peter M T Deen; Carel H van Os
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Experimental nephrology 2000;8(6):326-31.
2000: Erik-Jan Kamsteeg; Peter M T Deen
Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
American journal of physiology. Renal physiology 2000;279(4):F778-84.
2000: Peter M T Deen; Bas W M Van Balkom; Erik-Jan Kamsteeg
Routing of the aquaporin-2 water channel in health and disease.
European journal of cell biology 2000;79(8):523-30.
2000: Carel H van Os; Erik-Jan Kamsteeg; Nannette Marr; Peter M T Deen
Phsyiological relevance of aquaporins: luxury or necessity?
Pflügers Archiv : European journal of physiology 2000;440(4):513-20.
2000: Erik-Jan Kamsteeg; SM Mulders; Daniel G Bichet; Peter M T Deen; Carel H van Os
Consequences of aquaporin 2 tetramerization for genetics and routing.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15 Suppl 6():26-8.
1999: Frédéric Sidoux-Walter; Nicole Lucien; B Olivès; Renée Gobin; G Rousselet; Erik-Jan Kamsteeg; Pierre Ripoche; Peter M T Deen; Jean-Pierre Cartron; Pascal Bailly
At physiological expression levels the Kidd blood group/urea transporter protein is not a water channel.
The Journal of biological chemistry 1999;274(42):30228-35.
1999: Erik-Jan Kamsteeg; T A Wormhoudt; JP Rijss; Carel H van Os; Peter M T Deen
An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
The EMBO journal 1999;18(9):2394-400.
1998: SM Mulders; Daniel G Bichet; JP Rijss; Erik-Jan Kamsteeg; Marie-Françoise Arthus; Michèle Lonergan; M Fujiwara; Kenneth Morgan; Richtje Leijendekker; Peter van Der Sluijs; Carel H van Os; Peter M T Deen
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
The Journal of clinical investigation 1998;102(1):57-66.