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Jan Pronk

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Ilja Boor; Machiel Nagtegaal; Wouter Kamphorst; Paul Van Der Valk; Jan C Pronk; Jack van Horssen; Argirios Dinopoulos; Kevin E Bove; Ignacio Pascual-Castroviejo; Francesco Muntoni; Raúl Estévez; Gert C Scheper; Marjo S van der Knaap
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
P K Ilja Boor; Koen de Groot; Vlatka Mejaski-Bosnjak; Christiana Brenner; Marjo S van der Knaap; Gert C Scheper; Jan C Pronk
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

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All Publications

2007: Ilja Boor; Machiel Nagtegaal; Wouter Kamphorst; Paul Van Der Valk; Jan C Pronk; Jack van Horssen; Argirios Dinopoulos; Kevin E Bove; Ignacio Pascual-Castroviejo; Francesco Muntoni; Raúl Estévez; Gert C Scheper; Marjo S van der Knaap
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Acta neuropathologica 2007;114(4):403-10.
2007: Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Nature genetics 2007;39(4):534-9.
2006: P K Ilja Boor; Koen de Groot; Vlatka Mejaski-Bosnjak; Christiana Brenner; Marjo S van der Knaap; Gert C Scheper; Jan C Pronk
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Human mutation 2006;27(6):505-12.
2006: Marjo S van der Knaap; Jan C Pronk; Gert C Scheper
Vanishing white matter disease.
Lancet neurology 2006;5(5):413-23.
2006: Barbara van Kollenburg; Adri A M Thomas; Gerre Vermeulen; Gesina A M Bertrand; Carola G M van Berkel; Jan C Pronk; Christopher G Proud; Marjo S van der Knaap; Gert C Scheper
Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.
Neurobiology of disease 2006;21(3):496-504.
2006: Jan C Pronk; Barbara van Kollenburg; Gert C Scheper; Marjo S van der Knaap
Vanishing white matter disease: a review with focus on its genetics.
Mental retardation and developmental disabilities research reviews 2006;12(2):123-8.
2005: P K Ilja Boor; Koen de Groot; Quinten Waisfisz; Wouter Kamphorst; Cees B M Oudejans; James M Powers; Jan C Pronk; Gert C Scheper; Marjo S van der Knaap
MLC1: a novel protein in distal astroglial processes.
Journal of neuropathology and experimental neurology 2005;64(5):412-9.
2004: Marjo S van der Knaap; P A J Leegwater; Carola G M van Berkel; C Brenner; E Storey; Maja Di Rocco; Fabrizio Salvi; Jan C Pronk
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
Neurology 2004;62(9):1598-600.
2004: Antonio Gallo; Maria A Rocca; Andrea Falini; Cesa Scaglione; Fabrizio Salvi; Anna Gambini; Laura Guerrini; Mario Mascalchi; Jan C Pronk; M S van der Knaap; Massimo Filippi
Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.
Neurology 2004;62(2):323-6.
2003: Roberta Biancheri; A Rossi; Maja Di Rocco; Mirella Filocamo; Jan C Pronk; M S van der Knaap; Paolo Tortori-Donati
Leukoencephalopathy with vanishing white matter:: an adult onset case.
Neurology 2003;61(12):1818-9.
2003: Marjo S van der Knaap; Carola G M van Berkel; Jochen Herms; Rudy Van Coster; Martina Baethmann; Sakkubai Naidu; Eugen Boltshauser; Michèl A A P Willemsen; Barbara Plecko; Georg F Hoffmann; Christopher G Proud; Gert C Scheper; Jan C Pronk
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
American journal of human genetics 2003;73(5):1199-207.
2003: P A J Leegwater; Jan C Pronk; Marjo S van der Knaap
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Journal of child neurology 2003;18(9):639-45.
2002: Jan C Pronk; P A J Leegwater; M S van der Knaap
[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].
Nederlands tijdschrift voor geneeskunde 2002;146(41):1933-6.
2002: P A J Leegwater; P K I Boor; B Q Yuan; J van der Steen; Allerdien Visser; Andrea A M Könst; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk; Marjo S van der Knaap
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Human genetics 2002;110(3):279-83.
2002: Marjo S van der Knaap; P A J Leegwater; Andrea A M Könst; Allerdien Visser; Sakkubai Naidu; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
Annals of neurology 2002;51(2):264-70.
2002: P A J Leegwater; P K I Boor; Jan C Pronk; M S van der Knaap
Association of WKL1/MLC1 with catatonic schizophrenia.
Molecular psychiatry 2002;7(10):1037; author reply 1037-8.
2001: P A J Leegwater; Gerre Vermeulen; Andrea A M Könst; Sakkubai Naidu; Joyce Mulders; Allerdien Visser; P Kersbergen; D Mobach; D Fonds; Carola G M van Berkel; Richard Lemmers; R R Frants; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk; Marjo S van der Knaap
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Nature genetics 2001;29(4):383-8.
2001: P A J Leegwater; B Q Yuan; J van der Steen; Joyce Mulders; Andrea A M Könst; P K I Boor; Vlatka Mejaski-Bosnjak; S M van der Maarel; R R Frants; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk; Marjo S van der Knaap
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
American journal of human genetics 2001;68(4):831-8.
2000: Johan P de Winter; France Léveillé; Carola G M van Berkel; Martin A Rooimans; Laura van der Weel; Jûrgen Steltenpool; Ilja Demuth; Neil V Morgan; Noa Alon; Lucine Bosnoyan-Collins; J Lightfoot; P A J Leegwater; Quinten Waisfisz; K Komatsu; Fré Arwert; Jan C Pronk; Christopher G Mathew; Martin Digweed; Manuel Buchwald; Hans Joenje
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
American journal of human genetics 2000;67(5):1306-8.
2000: Gunay Balta; Johan P de Winter; H Kayserili; Jan C Pronk; H Joenje
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein.
Human mutation 2000;15(6):578.
2000: Johan P de Winter; Martin A Rooimans; Laura van der Weel; Carola G M van Berkel; Noa Alon; Lucine Bosnoyan-Collins; Jan de Groot; Yu Zhi; Quinten Waisfisz; Jan C Pronk; Fré Arwert; Christopher G Mathew; Rik J Scheper; Maureen Hoatlin; Manuel Buchwald; Hans Joenje
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
Nature genetics 2000;24(1):15-6.
1999: P A J Leegwater; Andrea A M Könst; B Kuyt; L A Sandkuijl; Sakkubai Naidu; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk; Marjo S van der Knaap
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.
American journal of human genetics 1999;65(3):728-34.
1999: Quinten Waisfisz; Neil V Morgan; Maria Savino; Johan P de Winter; Carola G M van Berkel; Maureen Hoatlin; L Ianzano; Robert Alan Gibson; Fré Arwert; Anna Savoia; Christopher G Mathew; Jan C Pronk; Hans Joenje
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
Nature genetics 1999;22(4):379-83.
1999: Quinten Waisfisz; Kathrin Saar; Neil V Morgan; Cigdem Altay; P A J Leegwater; Johan P de Winter; K Komatsu; G R Evans; Rolf-Dieter Wegner; A Reis; Hans Joenje; Fré Arwert; Christopher G Mathew; Jan C Pronk; Martin Digweed
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
American journal of human genetics 1999;64(5):1400-5.
1999: Anne-Marie Cleton-Jansen; Elna W Moerland; Jan C Pronk; Carola G M van Berkel; S Apostolou; Joanna Crawford; Anna Savoia; Arleen D Auerbach; Christopher G Mathew; David F Callen; Cees J Cornelisse
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
British journal of cancer 1999;79(7-8):1049-52.
1999: Joanna Crawford; L Ianzano; Maria Savino; Scott A Whitmore; Anne-Marie Cleton-Jansen; C Settasatian; Maria D'Apolito; Ram Seshadri; Jan C Pronk; Arleen D Auerbach; Peter C Verlander; Christopher G Mathew; Alex J Tipping; Norman A Doggett; Leopoldo Zelante; David F Callen; Anna Savoia
The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer.
Genomics 1999;56(1):90-7.
1999: A Koc; Jan C Pronk; Mehmet Alikasifoglu; H Joenje; Cigdem Altay
Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.
British journal of haematology 1999;104(1):127-30.
1998: Johan P de Winter; Quinten Waisfisz; Martin A Rooimans; Carola G M van Berkel; Lucine Bosnoyan-Collins; Noa Alon; Madeleine Carreau; O Bender; Ilja Demuth; Detlev Schindler; Jan C Pronk; Fré Arwert; Holger Hoehn; Martin Digweed; Manuel Buchwald; Hans Joenje
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
Nature genetics 1998;20(3):281-3.
1998: Scott A Whitmore; C Settasatian; Joanna Crawford; Karen M Lower; B McCallum; Ram Seshadri; Cees J Cornelisse; Elna W Moerland; Anne-Marie Cleton-Jansen; Alex J Tipping; Christopher G Mathew; M Savnio; Anna Savoia; Peter C Verlander; Arleen D Auerbach; Carola G M van Berkel; Jan C Pronk; Norman A Doggett; David F Callen
Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer.
Genomics 1998;52(3):325-31.
1998: Scott A Whitmore; Joanna Crawford; S Apostolou; Helen Eyre; Elizabeth Baker; Karen M Lower; C Settasatian; S Goldup; Ram Seshadri; Robert Alan Gibson; Christopher G Mathew; Anne-Marie Cleton-Jansen; Anna Savoia; Jan C Pronk; Arleen D Auerbach; Norman A Doggett; Grant R Sutherland; David F Callen
Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.
Genomics 1998;50(1):1-8.
1997: Hans Joenje; Anneke B Oostra; M Wijker; F M di Summa; Carola G M van Berkel; Martin A Rooimans; Wolfram Ebell; M van Weel; Jan C Pronk; Manuel Buchwald; Fré Arwert
Evidence for at least eight Fanconi anemia genes.
American journal of human genetics 1997;61(4):940-4.
1997: L Ianzano; Maria D'Apolito; Marta Centra; Maria Savino; Orna Levran; Arleen D Auerbach; Anne-Marie Cleton-Jansen; Norman A Doggett; Jan C Pronk; Alex J Tipping; Robert Alan Gibson; Christopher G Mathew; Scott A Whitmore; S Apostolou; David F Callen; Leopoldo Zelante; Anna Savoia
The genomic organization of the Fanconi anemia group A (FAA) gene.
Genomics 1997;41(3):309-14.
1996: J R Foe; Martin A Rooimans; Lucine Bosnoyan-Collins; Noa Alon; M Wijker; L Parker; J Lightfoot; Madeleine Carreau; David F Callen; Anna Savoia; N C Cheng; Carola G M van Berkel; M H Strunk; J J Gille; Gerard Pals; Frank A E Kruyt; Jan C Pronk; Fré Arwert; Manuel Buchwald; Hans Joenje
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(4):488.
1996: J R Lo Ten Foe; Martin A Rooimans; Lucine Bosnoyan-Collins; Noa Alon; M Wijker; L Parker; J Lightfoot; Madeleine Carreau; David F Callen; Anna Savoia; N C Cheng; Carola G M van Berkel; M H Strunk; J J Gille; Gerard Pals; Frank A E Kruyt; Jan C Pronk; Fré Arwert; Manuel Buchwald; Hans Joenje
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(3):320-3.
1995: Jan C Pronk; Robert Alan Gibson; Anna Savoia; M Wijker; Neil V Morgan; S Melchionda; D Ford; S Temtamy; J J Ortega; S Jansen
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.
Nature genetics 1995;11(3):338-40.
1992: R A Bank; E H Hettema; M A Muijs; Gerard Pals; Fré Arwert; Dorret I Boomsma; Jan C Pronk
Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians.
Human genetics 1992;89(2):213-22.
1991: R A Bank; E H Hettema; Fré Arwert; Arie V Nieuw Amerongen; Jan C Pronk
Electrophoretic characterization of posttranslational modifications of human parotid salivary alpha-amylase.
Electrophoresis 1991;12(1):74-9.
1990: P C Groot; Willem H Mager; Nico Henriquez; Jan C Pronk; Fré Arwert; RJ Planta; Aldur W Eriksson; R R Frants
Evolution of the human alpha-amylase multigene family through unequal, homologous, and inter- and intrachromosomal crossovers.
Genomics 1990;8(1):97-105.
1989: P C Groot; M J Bleeker; Jan C Pronk; Fré Arwert; Willem H Mager; RJ Planta; Aldur W Eriksson; R R Frants
The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes.
Genomics 1989;5(1):29-42.
1989: R W ten Kate; Gerard Pals; J C Res; G J van Kamp; F W Verheugt; Jan C Pronk; A J M Donker; Aldur W Eriksson; S G M Meuwissen
The glomerular sieving of pepsinogen A and C in man.
European journal of clinical investigation 1989;19(3):306-10.
1989: Jan-Paul Bebelman; M P Evers; B Zelle; R Bank; Jan C Pronk; S G M Meuwissen; Willem H Mager; RJ Planta; Aldur W Eriksson; R R Frants
Family and population studies on the human pepsinogen A multigene family.
Human genetics 1989;82(2):142-6.
1989: M P Evers; B Zelle; Jan-Paul Bebelman; V van Beusechem; L Kraakman; M J Hoffer; Jan C Pronk; Willem H Mager; RJ Planta; Aldur W Eriksson
Nucleotide sequence comparison of five human pepsinogen A (PGA) genes: evolution of the PGA multigene family.
Genomics 1989;4(3):232-9.
1989: R W ten Kate; Gerard Pals; A J M Donker; Jan C Pronk; S G M Meuwissen
Tubular handling of pepsinogen A and C in man: evidence for two distinct tubular reabsorption mechanisms for low molecular weight proteins in man.
Nephron 1989;53(3):223-8.
1988: R W ten Kate; Gerard Pals; Jan C Pronk; R A Bank; Aldur W Eriksson; A J M Donker; S G M Meuwissen
Renal handling of pepsinogens A and C in man.
Clinical science (London, England : 1979) 1988;75(6):649-54.
1988: Jan C Pronk; R R Frants; B Crusius; Aldur W Eriksson; F de Wolf; C A Boucher; M Bakker; J Goudsmit
No predictive value of GC phenotypes for HIV infection and progression to AIDS.
Human genetics 1988;80(2):181-2.
1988: R A Bank; B C Crusius; T Zwiers; S G M Meuwissen; Fré Arwert; Jan C Pronk
Identification of a Glu greater than Lys substitution in the activation segment of human pepsinogen A-3 and -5 isozymogens by peptide mapping using endoproteinase Lys-C.
FEBS letters 1988;238(1):105-8.
1988: Gerard Pals; Aldur W Eriksson; Jan C Pronk; R R Frants; Elly C Klinkenberg-Knol; A Bosma; B D Westerveld; R T Taggart; I M Samloff; S G M Meuwissen
Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus.
Clinical genetics 1988;34(2):90-7.
1988: M P Evers; B Zelle; Jan-Paul Bebelman; Jan C Pronk; Willem H Mager; RJ Planta; Aldur W Eriksson; R R Frants
Cloning and sequencing of rhesus monkey pepsinogen A cDNA.
Gene 1988;65(2):179-85.
1988: P C Groot; M J Bleeker; Jan C Pronk; Fré Arwert; Willem H Mager; RJ Planta; Aldur W Eriksson; R R Frants
Human pancreatic amylase is encoded by two different genes.
Nucleic acids research 1988;16(10):4724.
1988: Gerard Pals; B D Westerveld; J Defize; Jan C Pronk; H Brand; M Flipse; C Verwey; S G M Meuwissen; Aldur W Eriksson
Discrepancies between gastric mucosal and urinary pepsinogen A patterns and in vitro synthesis and secretion of human pepsinogen.
Digestive diseases and sciences 1988;33(2):135-43.
1988: S G M Meuwissen; A Bosma; E van Donk; R Waalewijn; Gerard Pals; Jan C Pronk; Aldur W Eriksson; H Mullink; C J Meijer
Immunohistochemical localization of pepsinogen A and C containing cells in Barrett's oesophagus.
Virchows Archiv. A, Pathological anatomy and histopathology 1988;413(1):11-6.
1988: B Zelle; M P Evers; P C Groot; Jan-Paul Bebelman; Willem H Mager; RJ Planta; Jan C Pronk; S G M Meuwissen; Marten H Hofker; Aldur W Eriksson
Genomic structure and evolution of the human pepsinogen A multigene family.
Human genetics 1988;78(1):79-82.
1987: B D Westerveld; Gerard Pals; A Bosma; J Defize; Jan C Pronk; R R Frants; Aldur W Eriksson; S G M Meuwissen
Gastric proteases in Barrett's esophagus.
Gastroenterology 1987;93(4):774-8.
1987: B D Westerveld; Gerard Pals; Cornelis B H W Lamers; J Defize; Jan C Pronk; R R Frants; E C Ooms; J Kreuning; P J Kostense; Aldur W Eriksson
Clinical significance of pepsinogen A isozymogens, serum pepsinogen A and C levels, and serum gastrin levels.
Cancer 1987;59(5):952-8.
1987: Jan C Pronk; Dorret I Boomsma; Gerard Pals; R R Frants; M Overbeke; S G M Meuwissen; JF Orlebeke; Aldur W Eriksson
Twin studies on urinary pepsinogen A phenotypes and serum pepsinogen A levels.
Acta geneticae medicae et gemellologiae 1987;36(4):517-21.
1986: B D Westerveld; Gerard Pals; J Defize; Jan C Pronk; R R Frants; E C Ooms; J Kreuning; Aldur W Eriksson; S G M Meuwissen
Pepsinogen A polymorphism in gastric mucosa and urine, with special reference to patients with gastric cancer.
Clinical genetics 1986;30(3):202-12.
1985: J Défize; Gerard Pals; Jan C Pronk; R R Frants; G Rimmelzwaan; B D Westerveld; Aldur W Eriksson
Purification of the pepsinogen A isozymogens by means of high resolution ion-exchange chromatography. Evidence for post-translational modifications.
Scandinavian journal of clinical and laboratory investigation 1985;45(7):649-55.
1985: J Défize; Gerard Pals; R R Frants; B D Westerveld; H P M Festen; Jan C Pronk; S G M Meuwissen; Aldur W Eriksson
The influence of omeprazole on the synthesis and secretion of pepsinogen in isolated rabbit gastric glands.
Biochemical pharmacology 1985;34(20):3693-9.
1985: Gerard Pals; J Defize; Jan C Pronk; R R Frants; Aldur W Eriksson; B D Westerveld; S G M Meuwissen; I Biemond
Relations between serum pepsinogen levels, pepsinogen phenotypes, ABO blood groups, age and sex in blood donors.
Annals of human biology 1985;12(5):403-11.
1985: Gerard Pals; B D Westerveld; Jan C Pronk; A Bosma; Aldur W Eriksson; S G M Meuwissen
Pepsinogen A (I) isozymogens in normal gastric mucosa and in malignant tissue from patients with gastric cancer.
The Netherlands journal of medicine 1985;28(10):463-9.
1985: Gerard Pals; I Biemond; J Défize; B D Westerveld; Jan C Pronk; S G M Meuwissen; Aldur W Eriksson
Serum pepsinogen I levels in relation to pepsinogen phenotypes.
Progress in clinical and biological research 1985;173():91-100.
1985: Jan C Pronk; R R Frants; Gerard Pals; J Défize; S G M Meuwissen; Aldur W Eriksson
Urinary pepsinogen I: A multigene family?
Progress in clinical and biological research 1985;173():23-30.
1985: B D Westerveld; Gerard Pals; J Défize; Jan C Pronk; R R Frants; J Kreuning; Aldur W Eriksson; S G M Meuwissen
Qualitative and quantitative determinations of pepsinogen I in gastric cancer and premalignant changes of the stomach.
Progress in clinical and biological research 1985;173():201-12.
1985: B Zelle; A Geurts van Kessel; J de Wit; P Evers; Fré Arwert; Jan C Pronk; Willem H Mager; RJ Planta; Aldur W Eriksson; R R Frants
Assignment of human pepsinogen A locus to the q12-pter region of chromosome 11.
Human genetics 1985;70(4):337-40.
1984: R R Frants; Jan C Pronk; Gerard Pals; J Defize; B D Westerveld; S G M Meuwissen; J Kreuning; Aldur W Eriksson
Genetics of urinary pepsinogen: a new hypothesis.
Human genetics 1984;65(4):385-90.