M Elleder

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. pmc Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin
    Jakub Sikora
    Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General Teaching Hospital, Ke Karlovu 2, Prague 2, 12808, Czech Republic
    Acta Neuropathol 113:163-75. 2007
  2. ncbi request reprint Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
    M Elleder
    Institute of Inherited Metabolic Disorders, Charles University Prague, 1st Faculty of Medicine and General Faculty Hospital, Praha, Czech Republic
    J Hepatol 32:528-34. 2000
  3. ncbi request reprint [Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients]
    M Elleder
    Ustav dĕdicných poruch metabolizmu 1 LF UK, Praha
    Cas Lek Cesk 140:755-60. 2001
  4. ncbi request reprint Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
    L Dvorakova
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic
    J Inherit Metab Dis 29:591. 2006
  5. ncbi request reprint Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case
    M Elleder
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    Virchows Arch 439:206-11. 2001
  6. ncbi request reprint Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma
    M Elleder
    Institute for Inherited Metabolic Disorders, Div B, Bldg D, General Faculty Hospital and Charles University First School of Medicine, Ke Karlovu 2, 128 00 Prague, Czech Republic
    Virchows Arch 436:82-7. 2000
  7. ncbi request reprint New insights in cardiac structural changes in patients with Fabry's disease
    A Linhart
    Second Department of Internal Medicine, Charles University, Prague, Czech Republic
    Am Heart J 139:1101-8. 2000
  8. ncbi request reprint Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study
    H Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Ke Karlovu 2 128 08, 128 08, Prague 2, Czech Republic
    Virchows Arch 447:31-44. 2005
  9. ncbi request reprint Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
    H Pavlu-Pereira
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    J Inherit Metab Dis 28:203-27. 2005
  10. ncbi request reprint Gene symbol: ARSA. Disease: metachromatic leukodystrophy
    L Berna
    Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic
    Hum Genet 118:538. 2005

Collaborators

Detail Information

Publications40

  1. pmc Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin
    Jakub Sikora
    Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General Teaching Hospital, Ke Karlovu 2, Prague 2, 12808, Czech Republic
    Acta Neuropathol 113:163-75. 2007
    ..The results of our study may extend the knowledge of the neurotrophic function of pSap, which should be considered essential for the survival and maintenance of human cortical neurons...
  2. ncbi request reprint Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
    M Elleder
    Institute of Inherited Metabolic Disorders, Charles University Prague, 1st Faculty of Medicine and General Faculty Hospital, Praha, Czech Republic
    J Hepatol 32:528-34. 2000
    ..It also highlights the need to be aware of this condition as it may be underdiagnosed...
  3. ncbi request reprint [Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients]
    M Elleder
    Ustav dĕdicných poruch metabolizmu 1 LF UK, Praha
    Cas Lek Cesk 140:755-60. 2001
    ..We present a series of 25 patients (from 21 families) with deficiency of lysosomal sphingomyelinase (acid sphingomyelinase, ASM), diagnosed during the last 30 years...
  4. ncbi request reprint Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
    L Dvorakova
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic
    J Inherit Metab Dis 29:591. 2006
    ..Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood...
  5. ncbi request reprint Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case
    M Elleder
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    Virchows Arch 439:206-11. 2001
    ..Emphysema should thus be considered as a variant of the pulmonary NPC2 storage process, governed most probably by an epigenetic mechanism responsible for storage macrophage migration into the bronchiolar compartment...
  6. ncbi request reprint Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma
    M Elleder
    Institute for Inherited Metabolic Disorders, Div B, Bldg D, General Faculty Hospital and Charles University First School of Medicine, Ke Karlovu 2, 128 00 Prague, Czech Republic
    Virchows Arch 436:82-7. 2000
    ..The patient was a mixed heterozygote for the G934A and DeltaC(673-5) mutations...
  7. ncbi request reprint New insights in cardiac structural changes in patients with Fabry's disease
    A Linhart
    Second Department of Internal Medicine, Charles University, Prague, Czech Republic
    Am Heart J 139:1101-8. 2000
    ..Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement...
  8. ncbi request reprint Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study
    H Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Ke Karlovu 2 128 08, 128 08, Prague 2, Czech Republic
    Virchows Arch 447:31-44. 2005
    ..It is suggested that different associations of LacCer with the lysosomal storage process may reflect differences in glycosphingolipid turnover induced by the storage-compromised lysosomal/endosomal system...
  9. ncbi request reprint Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
    H Pavlu-Pereira
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    J Inherit Metab Dis 28:203-27. 2005
    ..It appears more common in central Europe. The visceral, rapidly progressing early fatal type has been recognized rarely so far...
  10. ncbi request reprint Gene symbol: ARSA. Disease: metachromatic leukodystrophy
    L Berna
    Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic
    Hum Genet 118:538. 2005
  11. ncbi request reprint Gene symbol: ARSA. Disease: metachromatic leukodystrophy
    L Berna
    Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic
    Hum Genet 118:537. 2005
  12. ncbi request reprint Gene symbol: ARSA. Disease: metachromatic leukodystrophy
    L Berna
    Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic
    Hum Genet 118:538. 2005
  13. ncbi request reprint Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
    M Elleder
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine, Prague, Czech Republic
    Neuropediatrics 36:171-80. 2005
    ..1 A > T mutation in the prosaposin gene confirmed the diagnosis. PSap-d may be an underdiagnosed condition in infants with severe neurological and dystrophic signs starting immediately after birth...
  14. ncbi request reprint A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
    H Hulkova
    Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine, Ke Karlovu 2, 128 08 Prague 2, Czech Republic
    Hum Mol Genet 10:927-40. 2001
    ..803delG mutation. Both of the investigated families came from the same district of eastern Slovakia...
  15. doi request reprint Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
    P Vylet'al
    Center for Applied Genomics and Institute for Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    J Inherit Metab Dis 31:508-17. 2008
    ..Extended comparative studies of UMOD expression in kidney specimens obtained during individual types of therapies are therefore of great interest...
  16. ncbi request reprint Cardiac manifestations in Fabry disease
    A Linhart
    2nd Department of Internal Medicine, 1st School of Medicine, Charles University, Prague, Czech Republic
    J Inherit Metab Dis 24:75-83; discussion 65. 2001
    ..The extent of cardiac involvement, in particular LV mass assessment, could represent an ideal surrogate endpoint for evaluating the efficacy of specific therapies...
  17. ncbi request reprint Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
    P Vylet'al
    Center for Applied Genomics, Charles University 1st School of Medicine, Prague, Czech Republic
    Kidney Int 70:1155-69. 2006
    ..Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome...
  18. doi request reprint Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
    H Hulkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Bldg D, Division B, Prague, Czech Republic
    J Inherit Metab Dis 32:551-9. 2009
    ..The results are discussed in relation to our recently published hypothesis on GD cell pathology...
  19. ncbi request reprint Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease)
    M Elleder
    Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine and University Hospital, Karl Franzens University Prague, Czech Republic
    Clin Neuropathol 17:184-9. 1998
    ..As the neuronal unmodified storage deposits tend also to be present in aggregate form, care must be taken to distinguish spheroids composed of modified from those composed of unmodified storage material...
  20. ncbi request reprint Gene symbol: ARSA. Disease: metachromatic leukodystrophy
    L Berna
    Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic
    Hum Genet 118:537. 2005
  21. ncbi request reprint So-called membranocystic lesion (MCL)--a new variant of ceroid type lipopigment
    M Elleder
    1st Department of Pathology, Charles University, School of Medicine, Prague, Czechoslovakia
    Adv Exp Med Biol 266:191-206; discussion 207. 1989
    ..It is supposed that the MCL lipopigment is formed mainly extracellularly from the lipid rich debris...
  22. doi request reprint Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
    F Majer
    Charles University in Prague, 1st Faculty of Medicine, Institute of Inherited Metabolic Disorders, Ke Karlovu 2, 128 08 Prague, Czech Republic
    Gene 498:183-95. 2012
    ..These observations suggest that the truncated protein is unstable and is co-translationally or early post-translationally degraded...
  23. ncbi request reprint Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes
    R Matej
    Department of Pathology, Thomayer Teaching Hospital, Prague, Czech Republic
    Clin Neuropathol 27:64-71. 2008
    ..1117G>A in the GFAP, which is predicted to lead to the amino acid exchange p.Glu-373Lys (E373K) in the C-terminal tail of the GFAP protein. The parents and a healthy sister did not show any variation in GFAP in somatic cells...
  24. doi request reprint Intravascular ultrasound assessment of coronary artery involvement in Fabry disease
    T Kovarnik
    Second Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic
    J Inherit Metab Dis 31:753-60. 2008
    ..We used intravascular ultrasound (IVUS) to characterize coronary artery involvement in patients with Fabry disease (FD)...
  25. ncbi request reprint Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
    K Vesela
    Center of Integrated Genomics, Department of Paediatrics, Charles University Prague, Prague, Czech Republic
    Acta Paediatr 93:1312-7. 2004
    ....
  26. ncbi request reprint Attempts to induce melanosome degradation in vivo
    J Borovansky
    2nd Department of Medical Chemistry and Biochemistry, Charles University, Prague, Czech Republic
    Folia Biol (Praha) 45:47-52. 1999
    ..Considering the structure of melanins, redox mechanisms (analogous with the metabolism of polycyclic hydrocarbons (DePierre and Ernster, 1978)) seem to be more probably involved in pigment degradation than hydrolytic reactions...
  27. ncbi request reprint A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance
    J Sikora
    Institute of Inherited Metabolic Disorders, 1st Medical Faculty, Charles University and General Teaching Hospital, Prague, Czech Republic
    Cesk Patol 43:93-103. 2007
    ..Whatever mechanism involved, the findings should be considered relevant in differential diagnostics, despite their low clinical penetrance, should be registered and thus rendered available for future definition...
  28. ncbi request reprint Mitochondrial DNA depletion in Alpers syndrome
    M Tesarova
    Department of Paediatrics and Center for Integrated Genomics, Faculty of Medicine, Charles University, Prague, Czech Republic
    Neuropediatrics 35:217-23. 2004
    ..In conclusions, mtDNA depletion associated with Alpers syndrome may be tissue specific...
  29. ncbi request reprint Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature
    M Elleder
    1st Department of Pathology, Faculty of Medicine, Charles University, Prague, Czechoslovakia
    Virchows Arch B Cell Pathol Incl Mol Pathol 57:367-74. 1989
    ....
  30. ncbi request reprint Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients
    J Sikora
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
    Ann Hum Genet 67:63-70. 2003
    ..Geographical and/or social isolation of the affected families are likely contributing factors for the high number of homozygotes in our group...
  31. pmc Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction
    T Petr
    Charles University in Prague, 1st Faculty of Medicine, Institute of Clinical Biochemistry and Laboratory Diagnostics, Prague, Czech Republic
    Eur J Histochem 54:e23. 2010
    ..This ensures effective physical fixation, especially in tissues rich in polar lipids (precipitation, prevention of in situ diffusion), and removal of cholesterol, which can act as a hydrophobic blocking barrier...
  32. ncbi request reprint Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data
    M Elleder
    Institute of Inherited Metabolic Disorders, Charles University Prague, 1st Faculty of Medicine and University Hospital, Bldg D, Division B, Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    J Inherit Metab Dis 29:707-15. 2006
    ..The mechanism responsible for GlcCer transfer remains to be elucidated. It may also help in explaining the so far unclear origin of glucosylsphingosine (GlcSph) and define the mutual relation between these two processes...
  33. ncbi request reprint MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
    J Obenberger
    Department of Neurology, First Medical Faculty, Charles University, Prague, Czech Republic
    Neuroradiology 41:182-4. 1999
    ....
  34. ncbi request reprint Sequelae of storage in Fabry disease--pathology and comparison with other lysosomal storage diseases
    M Elleder
    Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine and University Hospital Prague, Prague, Czech Republic
    Acta Paediatr Suppl 92:46-53; discussion 45. 2003
    ..To evaluate the sequelae of the lysosomal storage of globotriaosylceramide (Gb3) in a series of patients with Fabry disease...
  35. ncbi request reprint Autofluorescence of melanins induced by ultraviolet radiation and near ultraviolet light. A histochemical and biochemical study
    M Elleder
    Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    Histochem J 33:273-81. 2001
    ..Our results demonstrate a novel type of fluorogen in autofluorescent pigment histochemistry. The implications of the results are discussed especially in the light of the possible presence of melanin-based fluorogens in lipopigments...
  36. ncbi request reprint Neonatal (perinatal) hemochromatosis
    M Elleder
    Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General Faculty Hospital, Prague
    Cesk Patol 37:146-53. 2001
    ..In one case there was simultaneous cytomegaly. Entities which must be considered in the differential diagnosis of neonatal hemochromatosis because of considerable hepatic and extrahepatic iron accumulation have been discussed...
  37. ncbi request reprint Primary extracellular ceroid type lipopigment. A histochemical and ultrastructural study
    M Elleder
    1st Hlava s Institute of Pathology, Charles University, Prague, Czechoslovakia
    Histochem J 23:247-58. 1991
    ..A hitherto unknown form of extracellular ceroid is the so-called membranocystic lesion found in Nasu-Hakola's disease, in several other conditions and in annular ceroid in human atheromas...
  38. ncbi request reprint Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
    S Kmoch
    Institute of Inherited Metabolic Diseases, Division B, Building D, Ke Karlovu 2, 12808 Prague 2, Czech Republic
    Hum Mol Genet 9:1779-86. 2000
    ..This is the first described case of human cataract caused by crystallization of a protein in the lens. It involves the third known mutation in the CRYGD gene but offers, for the first time, a causative explanation of the phenotype...
  39. ncbi request reprint Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    E D Carstea
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Science 277:228-31. 1997
    ....
  40. pmc Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
    G Millat
    INSERM Unit 189, Lyon Sud Medical School, Oullins, France
    Am J Hum Genet 69:1013-21. 2001
    ..This mutation generated multiple transcripts, including a minute proportion of normally spliced RNA, which may explain the milder phenotype...