J A Maassen

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. pmc Fatty acid-induced mitochondrial uncoupling in adipocytes as a key protective factor against insulin resistance and beta cell dysfunction: do adipocytes consume sufficient amounts of oxygen to oxidise fatty acids?
    J A Maassen
    Diabetologia 51:907-8. 2008
  2. ncbi Mitochondria, body fat and type 2 diabetes: what is the connection?
    J A Maasen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Minerva Med 99:241-51. 2008
  3. ncbi Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis
    J Antonie Maassen
    Department of Molecular Cell Biology, LUMC, Leiden, The Netherlands
    Am J Med Genet 115:66-70. 2002
  4. ncbi A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Wassenaarseweg 72, NL 2333 AL Leiden, The Netherlands
    Arch Physiol Biochem 110:186-8. 2002
  5. ncbi [From gene to disease; 'maturity-onset diabetes of the young' (MODY), monogenetic inheritable forms of diabetes mellitus]
    J A Maassen
    afd Moleculaire Celbiologie, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden
    Ned Tijdschr Geneeskd 145:1352-3. 2001
  6. ncbi Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden and EVM Institute, Medisch Centrum, Vrije Universiteit, Amsterdam, The Netherlands
    Panminerva Med 44:295-300. 2002
  7. ncbi Mitochondrial diabetes: molecular mechanisms and clinical presentation
    J Antonie Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Diabetes 53:S103-9. 2004
  8. ncbi Molecular and clinical aspects of mitochondrial diabetes mellitus
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Exp Clin Endocrinol Diabetes 109:127-34. 2001
  9. ncbi Molecular mechanisms of mitochondrial diabetes (MIDD)
    Johannes A Maassen
    Department of Molecular Cell Biology LUMC, Leiden University Medical Centre, The Netherlands
    Ann Med 37:213-21. 2005
  10. ncbi Mitochondrial dysfunction in adipocytes: the culprit in type 2 diabetes?
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Einthovenweg 20, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 49:619-20. 2006

Collaborators

Detail Information

Publications46

  1. pmc Fatty acid-induced mitochondrial uncoupling in adipocytes as a key protective factor against insulin resistance and beta cell dysfunction: do adipocytes consume sufficient amounts of oxygen to oxidise fatty acids?
    J A Maassen
    Diabetologia 51:907-8. 2008
  2. ncbi Mitochondria, body fat and type 2 diabetes: what is the connection?
    J A Maasen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Minerva Med 99:241-51. 2008
    ..Furthermore, it contributes to damage the pancreatic beta-cells. Ultimately, this situation results in the development of a hyperglycemic state...
  3. ncbi Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis
    J Antonie Maassen
    Department of Molecular Cell Biology, LUMC, Leiden, The Netherlands
    Am J Med Genet 115:66-70. 2002
    ..Furthermore, the clinical presentation of the disease is summarized as are the methods to detect the A3243G mutation, particular in view of the often low levels of heteroplasm of the A3243G mutation...
  4. ncbi A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Wassenaarseweg 72, NL 2333 AL Leiden, The Netherlands
    Arch Physiol Biochem 110:186-8. 2002
    ..This observation supports the hypothesis that during embryogenesis mitochondrial DNA goes through a genetic bottleneck with a limited number of segregating units...
  5. ncbi [From gene to disease; 'maturity-onset diabetes of the young' (MODY), monogenetic inheritable forms of diabetes mellitus]
    J A Maassen
    afd Moleculaire Celbiologie, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden
    Ned Tijdschr Geneeskd 145:1352-3. 2001
    ..Furthermore, MODY2 patients generally have a milder clinical course and fewer complications than MODY3 patients, who consequently require a more aggressive therapeutic approach...
  6. ncbi Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden and EVM Institute, Medisch Centrum, Vrije Universiteit, Amsterdam, The Netherlands
    Panminerva Med 44:295-300. 2002
    ..These disease states highlight the critical contribution of the carbohydrate flux through glycolysis and mitochondria and its coupling to ATP production in determining insulin secretion...
  7. ncbi Mitochondrial diabetes: molecular mechanisms and clinical presentation
    J Antonie Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Diabetes 53:S103-9. 2004
    ....
  8. ncbi Molecular and clinical aspects of mitochondrial diabetes mellitus
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Exp Clin Endocrinol Diabetes 109:127-34. 2001
    ..This situation may contribute to the development of particular phenotypes that are associated with distinct mtDNA mutations...
  9. ncbi Molecular mechanisms of mitochondrial diabetes (MIDD)
    Johannes A Maassen
    Department of Molecular Cell Biology LUMC, Leiden University Medical Centre, The Netherlands
    Ann Med 37:213-21. 2005
    ..The underlying mechanisms and variability in clinical presentation are discussed...
  10. ncbi Mitochondrial dysfunction in adipocytes: the culprit in type 2 diabetes?
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Einthovenweg 20, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 49:619-20. 2006
  11. ncbi Lessons that can be learned from patients with diabetogenic mutations in mitochondrial DNA: implications for common type 2 diabetes
    Johannes A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2300RC Leiden, The Netherlands
    Curr Opin Clin Nutr Metab Care 10:693-7. 2007
    ..To discuss the role of mitochondria in the development of type 2 diabetes...
  12. pmc Fatty acid-induced mitochondrial uncoupling in adipocytes as a key protective factor against insulin resistance and beta cell dysfunction: a new concept in the pathogenesis of obesity-associated type 2 diabetes mellitus
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Postal Zone S01 P, PO Box 9600, 2300RC, Leiden, The Netherlands
    Diabetologia 50:2036-41. 2007
    ..Thus, the number and activity of mitochondria within adipocytes contribute to the threshold at which fatty acids are released into the circulation, leading to insulin resistance and type 2 diabetes...
  13. ncbi New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome
    Johannes A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands
    Endocrinol Metab Clin North Am 35:385-96, x-xi. 2006
    ..Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin,and a resetting of the ATP/ADP-regulated K-channel seem to be the pathogenic factors involved...
  14. ncbi Mitochondrial diabetes and its lessons for common Type 2 diabetes
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands
    Biochem Soc Trans 34:819-23. 2006
    ..As a consequence, a systemic overload with fatty acids occurs, leading to an enhanced decline in beta-cell function due to lipotoxicity...
  15. ncbi Mitochondrial diabetes mellitus
    J A Maassen
    Department of Molecular Cell Biology, Leiden University Medical Center, The Netherlands
    J Endocrinol Invest 25:477-84. 2002
    ..As a result, mutations in mtDNA can deregulate multiple processes within cells and the balance of this deregulation may contribute to the clinical phenotype...
  16. ncbi Dynamics of insulin signalling in liver during hyperinsulinemic euglycaemic clamp conditions in vivo and the effects of high-fat feeding in male mice
    E Korsheninnikova
    Departments of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
    Arch Physiol Biochem 113:173-85. 2007
    ..A sustained increased phosphorylation of the serine/threonine kinases p70S6kinase and Jun N-terminal kinase in the absence of insulin may underlie the abrogated phosphorylation of the IRS proteins and their downstream targets...
  17. ncbi Modulation of insulin-stimulated glycogen synthesis by Src Homology Phosphatase 2
    D M Ouwens
    Department of Molecular Cell Biology, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL, Leiden, The Netherlands
    Mol Cell Endocrinol 175:131-40. 2001
    ..This results in an impaired ability of insulin to stimulate glycogen synthesis...
  18. ncbi Sustained activation of the mammalian target of rapamycin nutrient sensing pathway is associated with hepatic insulin resistance, but not with steatosis, in mice
    E Korsheninnikova
    Department of Molecular Cell Biology, Leiden University Medical Centre, Postzone S1 P, Postbus 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 49:3049-57. 2006
    ..We examined activation of mTOR-signalling in relation to insulin resistance and hepatic steatosis in mice...
  19. doi Glucocorticoid receptor gene polymorphisms are associated with reduced first-phase glucose-stimulated insulin secretion and disposition index in women, but not in men
    D H van Raalte
    Diabetes Center, Department of Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands
    Diabet Med 29:e211-6. 2012
    ..We assessed whether polymorphisms in the glucocorticoid receptor gene NR3C1 associate with measures of β-cell function and insulin sensitivity derived from hyperglycaemic clamps in subjects with normal or impaired glucose tolerance...
  20. ncbi A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding
    E R van der Vorm
    Department of Medical Biochemistry, Sylvius Laboratories, State University, Leiden, The Netherlands
    J Biol Chem 269:14297-302. 1994
    ..The ability of the Ser412 mutant to bind insulin in cross-linking experiments suggests that the impaired transport of the proreceptor to the cell surface is the primary cause for the binding defect to intact cells...
  21. ncbi IRS-1 tyrosine phosphorylation reflects insulin-induced metabolic and mitogenic responses in 3T3-L1 pre-adipocytes
    D Telting
    Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands
    Arch Physiol Biochem 109:52-62. 2001
    ..These observations suggest that the level of IRS-1 phosphorylation rather than the level of IRS-2 phosphorylation mediates insulin-induced glycogen synthesis and DNA synthesis in 3T3-L1 pre-adipocytes...
  22. ncbi [From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)]
    J A Maassen
    Afd. Moleculaire Celbiologie, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden
    Ned Tijdschr Geneeskd 145:1153-4. 2001
    ..Approximately 1.3% of insulin-dependent diabetic patients in the Netherlands has this mutation. The main defect in these patients seems to be a reduced secretion of insulin by the pancreas in response to glucose stimulation...
  23. ncbi HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness
    E H van Essen
    Department of Metabolic Diseases and Endocrinology, Leiden University Medical Centre, The Netherlands
    Diabet Med 17:841-7. 2000
    ..Phenotypic expression of MIDD includes Type 1-like and Type 2-like diabetes. This study examined whether HLA-DQ phenotype and the degree of heteroplasmy in leucocyte and oral mucosa DNA influence clinical expression of the 3242 mutation...
  24. doi Genetic influences on the insulin response of the beta cell to different secretagogues
    A M C Simonis-Bik
    Diabetes Centre, VU University Medical Centre, ZH 4A62, PO Box 7057, 1007, Amsterdam, The Netherlands
    Diabetologia 52:2570-7. 2009
    ..The aim of the present study was to estimate the heritability of the beta cell insulin response to glucose and to glucose combined with glucagon-like peptide-1 (GLP-1) or with GLP-1 plus arginine...
  25. ncbi Loss of 50% of excess weight using a very low energy diet improves insulin-stimulated glucose disposal and skeletal muscle insulin signalling in obese insulin-treated type 2 diabetic patients
    I M Jazet
    Department of General Internal Medicine, C4 r 73, Leiden University Medical Centre, P O Box 9600, 2300 RC Leiden, The Netherlands
    Diabetologia 51:309-19. 2008
    ....
  26. doi Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps
    M J Groenewoud
    Department of Molecular Cell Biology, Leiden University Medical Center LUMC, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 51:1659-63. 2008
    ..Genome-wide association studies have recently identified novel type 2 diabetes susceptibility gene regions. We assessed the effects of six of these regions on insulin secretion as determined by a hyperglycaemic clamp...
  27. pmc Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk
    E Reiling
    Department of Molecular Cell Biology, Leiden University Medical Centre, PO Box 9600, 2300RC, Leiden, The Netherlands
    Diabetologia 52:1866-70. 2009
    ..In this study we examined whether these loci also contribute to type 2 diabetes susceptibility...
  28. pmc The heritability of beta cell function parameters in a mixed meal test design
    A M C Simonis-Bik
    Diabetes Center, VU University Medical Center, ZH 4A62, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    Diabetologia 54:1043-51. 2011
    ..We estimated the heritability of individual differences in beta cell function after a mixed meal test designed to assess a wide range of classical and model-derived beta cell function parameters...
  29. pmc A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance
    M P Klinkhamer
    Department of Medical Biochemistry, Sylvius Laboratory, Leiden, The Netherlands
    EMBO J 8:2503-7. 1989
    ..The mutation for the first time characterizes a region in the insulin receptor which seems to be involved in transmitting the insulin binding signal to the tyrosine kinase domain...
  30. ncbi Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors
    E R van der Vorm
    Department of Medical Biochemistry, Sylvius Laboratories, State University, Leiden, The Netherlands
    Diabetologia 36:172-4. 1993
    ..These findings demonstrate that the primary genetic lesion in Seip-Berardinelli's lipodystrophy is outside the insulin receptor gene and that an involvement of the insulin-like growth factor I receptor is also unlikely...
  31. pmc Genetic association analysis of LARS2 with type 2 diabetes
    E Reiling
    Department of Molecular Cell Biology, Leiden University Medical Center LUMC, 2300RC Leiden, The Netherlands
    Diabetologia 53:103-10. 2010
    ..0%). However, this association did not achieve genome-wide levels of significance. The aim of this study was to establish the true contribution of this variant and common variants in LARS2 (MAF > 5%) to type 2 diabetes risk...
  32. ncbi Neuropeptide Y polymorphism significantly magnifies diabetes and cardiovascular disease risk in obesity: the Hoorn Study
    U Jaakkola
    EMGO Institute, VU University Medical Center, Amsterdam, The Netherlands
    Eur J Clin Nutr 63:150-2. 2009
    ..58; 95% CI 2.87-20.03, P<0.001) in the obese but not in the nonobese subjects. The results indicate that obesity may be a pivotal factor in multiplying the disease risk associated with the Leu7Pro polymorphism in preproNPY...
  33. ncbi [Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]
    M Losekoot
    Leids Universitair Medisch Centrum, afd Klinische Genetica, Centrum voor Humane en Klinische Genetica, Wassenaarseweg 72, 2333 AL Leiden
    Ned Tijdschr Geneeskd 149:139-43. 2005
    ..To describe the results of mutation analysis of the genes involved in maturity onset diabetes of the young (MODY) types 1-3...
  34. ncbi Prevalence of variants in candidate genes for type 2 diabetes mellitus in The Netherlands: the Rotterdam study and the Hoorn study
    L M Hart
    Department of Molecular Cell Biology, Leiden University Medical Center, The Netherlands
    J Clin Endocrinol Metab 84:1002-6. 1999
    ..The large regional differences in allele frequency of the Arg972 allele of IRS-1 gene makes genetic association studies of this gene less reliable...
  35. ncbi Hypoglycaemia associated with the production of insulin-like growth factor II and insulin-like growth factor binding protein 6 by a haemangiopericytoma
    K Hoekman
    Department of Medical Oncology, Free University Hospital, Amsterdam, The Netherlands
    Clin Endocrinol (Oxf) 51:247-53. 1999
    ..The present study suggests an important role of the simultaneous production of IGF-II and IGFBP-6 in the pathophysiology of tumour-induced hypoglycaemia...
  36. ncbi Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
    L de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Endocrinol 151:333-41. 2004
    ....
  37. ncbi Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism
    E R van der Vorm
    Department of Medical Biochemistry, Sylvius Laboratories, Leiden, The Netherlands
    Horm Metab Res 26:599-601. 1994
    ..We conclude that the decrease in the relative amount of the A isoform in these patients is probably an epiphenomenon due to impaired insulin action...
  38. ncbi Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene
    L M t Hart
    Department of Molecular Cell Biology, Leiden University Medical Center, The Netherlands
    Diabetes 48:924-6. 1999
    ....
  39. ncbi Hyperosmotic stress activates the insulin receptor in CHO cells
    D M Ouwens
    Department of Molecular Cell Biology, Section Signal Transduction, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, Netherlands
    Biochim Biophys Acta 1540:97-106. 2001
    ..This may be responsible for some of the insulin-mimicking effects of hyperosmolarity. The activation of stress kinases by hyperosmolarity occurs independent of the IR...
  40. ncbi The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate
    G M Janssen
    Department of Molecular Cell Biology, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    J Biol Chem 274:29744-8. 1999
    ..The possible mechanisms underlying the pathogenesis of mitochondrial diabetes is discussed...
  41. ncbi Cardiac dysfunction induced by high-fat diet is associated with altered myocardial insulin signalling in rats
    D M Ouwens
    Department of Molecular Cell Biology, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL, Leiden, The Netherlands
    Diabetologia 48:1229-37. 2005
    ..In rats, exposure to excessive alimentary fat, inducing a type 2 diabetic phenotype, may result in myocardial insulin resistance and cardiac functional changes resembling DCM...
  42. ncbi The role of ras proteins in insulin signal transduction
    J A Maassen
    Department of Medical Biochemistry, Sylvius Laboratory, Leiden, The Netherlands
    Horm Metab Res 24:214-8. 1992
    ..Though the precise mechanism by which Ras is converted to the GTP bound state remains to be established, a tight correlation exists between receptor autophosphorylation and Ras-GTP formation...
  43. doi The association of mitochondrial content with prevalent and incident type 2 diabetes
    Erwin Reiling
    Leiden University Medical Center, Department of Molecular Cell Biology, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 95:1909-15. 2010
    ..However, empirical data, often based on small samples, did not confirm this observation in all studies. Therefore, the role of mtDNA content in T2D remains elusive...
  44. ncbi Skin fibroblasts of children with idiopathic short stature show an increased mitogenic response to IGF-I and secrete more IGFBP-3
    Gerdine A Kamp
    Department of Pediatrics, Leiden University Medical Center J6 204, PO Box 9600, 2300 RC Leiden, The Netherlands
    Clin Endocrinol (Oxf) 56:439-47. 2002
    ..Secondly, to investigate whether these cellular parameters can predict the growth response to GH treatment in children with ISS...
  45. ncbi An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport
    E R van der Vorm
    Department of Medical Biochemistry, Sylvius Laboratory, Leiden, The Netherlands
    J Biol Chem 267:66-71. 1992
    ..The mutation seems to alter the conformation of the receptor in such way that the transport of the proreceptor to the Golgi compartment, where proteolytical processing occurs, is inhibited...
  46. pmc Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study
    Erwin Reiling
    Department of Molecular Cell Biology, Leiden University Medical Center, The Netherlands
    Eur J Hum Genet 17:1056-62. 2009
    ..72). In conclusion, we did not find evidence for association of common variants in 13 nuclear-encoded mitochondrial proteins with T2DM...