Marcel F Jonkman

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. pmc Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    Marcel F Jonkman
    Department of Dermatology, University Medical Centre Groningen, The Netherlands
    Am J Hum Genet 77:653-60. 2005
  2. doi Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 130:2407-11. 2010
  3. doi Natural gene therapy in dystrophic epidermolysis bullosa
    Peter C van den Akker
    Department of Dermatology, University Medical Center Groningen, University of Groningen, The Netherlands
    Arch Dermatol 148:213-6. 2012
  4. doi Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations
    Anna M G Pasmooij
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    J Invest Dermatol 132:1374-83. 2012
  5. pmc Enhanced diagnostic immunofluorescence using biopsies transported in saline
    Robert M Vodegel
    Centre for Blistering Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    BMC Dermatol 4:10. 2004
  6. ncbi Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center, University of Groningen, Groningen, The Netherlands
    Discov Med 14:167-79. 2012
  7. doi Skin and heart: une liaison dangereuse
    Maria C Bolling
    Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
    Exp Dermatol 18:658-68. 2009
  8. pmc Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 77:727-40. 2005
  9. ncbi Two major 5'-untranslated regions for type XVII collagen mRNA
    Sebastiaan van Zalen
    Department of Dermatology, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9713 GZ Groningen, The Netherlands
    J Dermatol Sci 43:11-9. 2006
  10. doi Analysis of cutaneous somatic mosaicism
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Methods Mol Biol 961:165-77. 2013

Collaborators

Detail Information

Publications53

  1. pmc Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    Marcel F Jonkman
    Department of Dermatology, University Medical Centre Groningen, The Netherlands
    Am J Hum Genet 77:653-60. 2005
    ..The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity...
  2. doi Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 130:2407-11. 2010
    ..Furthermore, the revertant keratinocytes might offer the possibility to explore cell-based therapeutic strategies, by culturing in vitro and subsequently grafting as part of bioengineered dermo-epidermal substitutes on affected skin...
  3. doi Natural gene therapy in dystrophic epidermolysis bullosa
    Peter C van den Akker
    Department of Dermatology, University Medical Center Groningen, University of Groningen, The Netherlands
    Arch Dermatol 148:213-6. 2012
    ..This "natural gene therapy" phenomenon long has been recognized in other forms of epidermolysis bullosa but only recently in dystrophic epidermolysis bullosa...
  4. doi Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations
    Anna M G Pasmooij
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    J Invest Dermatol 132:1374-83. 2012
    ..The fact that so many, if not all, generalized JEB-nH COL17A1 patients have revertant patches offers opportunities for cell therapies in which the patient's own naturally corrected cells are used as a source...
  5. pmc Enhanced diagnostic immunofluorescence using biopsies transported in saline
    Robert M Vodegel
    Centre for Blistering Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    BMC Dermatol 4:10. 2004
    ..In such cases false negative results are easily obtained due to the relatively high dermal "background" fluorescence produced by polyclonal anti-human IgG fluorescein conjugates...
  6. ncbi Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center, University of Groningen, Groningen, The Netherlands
    Discov Med 14:167-79. 2012
    ..The revertant skin could potentially be used to treat the patient's own affected skin...
  7. doi Skin and heart: une liaison dangereuse
    Maria C Bolling
    Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
    Exp Dermatol 18:658-68. 2009
    ..Knowledge of these skin features and early recognition of such a syndrome may provide opportunities to halt or slow down cardiac disease progression, treat arrhythmias and even prevent sudden death...
  8. pmc Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 77:727-40. 2005
    ..This latter observation makes it likely that reversion may be overlooked and may happen more often than expected...
  9. ncbi Two major 5'-untranslated regions for type XVII collagen mRNA
    Sebastiaan van Zalen
    Department of Dermatology, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9713 GZ Groningen, The Netherlands
    J Dermatol Sci 43:11-9. 2006
    ..Since UTRs can modulate translation efficiency, the determination of the UTR sequence is indispensable for understanding the regulation of translation of type XVII collagen mRNA...
  10. doi Analysis of cutaneous somatic mosaicism
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Methods Mol Biol 961:165-77. 2013
    ..Here, we describe the preparation of skin sections and cells for LDM, followed by dissection, and subsequent DNA and RNA analysis in order to detect the underlying somatic mutation...
  11. ncbi The IgG "lupus-band" deposition pattern of pemphigus erythematosus: association with the desmoglein 1 ectodomain as revealed by 3 cases
    Dyah A M Oktarina
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Arch Dermatol 148:1173-8. 2012
    ..This combined pattern has been connected with a variant of pemphigus foliaceus named pemphigus erythematosus...
  12. doi Realm of revertant mosaicism expanding
    Marcel F Jonkman
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    J Invest Dermatol 132:514-6. 2012
    ..This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin...
  13. pmc Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
    Anna M G Pasmooij
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9700 RB Groningen, The Netherlands
    J Clin Invest 117:1240-8. 2007
    ..This opens the possibility of applying revertant cell therapy in mosaic EB of the LAMB3 gene by using autologous naturally corrected keratinocytes, thereby bypassing the recombinant gene correction phase...
  14. doi A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex
    Sophie C Flohil
    Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
    Eur J Dermatol 20:27-9. 2010
    ..We also found a new heterozygous amino acid substitution polymorphism in the variable keratin 14 N-terminal head domain (KRT14:c.88C>T, p.Arg30Cys), that did not segregate with the phenotype...
  15. doi The main problems of parents of a child with epidermolysis bullosa
    Corinne van Scheppingen
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, Groningen, The Netherlands
    Qual Health Res 18:545-56. 2008
    ..Despite the great variance in clinical pictures of the different (sub)types of EB, the main problems parents experienced appear quite similar. However, the problems did appear to differ in extensiveness, intensity, and gravity...
  16. doi Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Dermatol Sci 56:9-18. 2009
    ....
  17. ncbi Dexamethasone pulse therapy for Stevens-Johnson syndrome/toxic epidermal necrolysis
    Sylvia H Kardaun
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Acta Derm Venereol 87:144-8. 2007
    ..A larger controlled trial is warranted to investigate further the use of dexamethasone pulse therapy in SJS/TEN...
  18. pmc Is disturbed clearance of apoptotic keratinocytes responsible for UVB-induced inflammatory skin lesions in systemic lupus erythematosus?
    Esther Reefman
    Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, PO Box 30, 001, 9700 RB Groningen, The Netherlands
    Arthritis Res Ther 8:R156. 2006
    ....
  19. doi Determinants of skin problems of the stump in lower-limb amputees
    Henk E Meulenbelt
    Center for Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Arch Phys Med Rehabil 90:74-81. 2009
    ..To identify determinants of skin problems in lower-limb amputees...
  20. ncbi Skin problems in lower limb amputees: a systematic review
    Henk E J Meulenbelt
    Center for Rehabilitation, Northern Center for Health Care Research, University Medical Center Groningen, Groningen, The Netherlands
    Disabil Rehabil 28:603-8. 2006
    ..This impediment may have great impact in daily life. Our objective was to review literature systematically concerning incidence and prevalence of skin disorders of the stump in lower limb amputees...
  21. ncbi Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genet Test Mol Biomarkers 13:589-97. 2009
    ..2-100% (95% confidence interval). We conclude that this CSCE system is a rapid, reliable, cost-effective, and highly sensitive way of mutation scanning for COL7A1 in a molecular genetics service laboratory...
  22. ncbi Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)
    Renée C Niessen
    Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands
    Am J Med Genet A 137:313-22. 2005
    ..The 47,XX,+7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed...
  23. doi The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
    J Med Genet 48:160-7. 2011
    ..So far, 20 COL7A1 genotypes have been described in RDEB-I and genotype-phenotype correlations have not been studied extensively. The aim of the study was to gain more insight into the pathophysiology of this intriguing RDEB-I phenotype...
  24. doi Skin problems of the stump in lower-limb amputees: 2. Influence on functioning in daily life
    Henk E J Meulenbelt
    Department of Rehabilitation Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Acta Derm Venereol 91:178-82. 2011
    ..483; p = 0.01). In linear regression analyses, gender (β = -0.15) and number of skin problems (β = 0.25) accounted for 23% of the total score. This study confirms the influence of skin problems on functioning in daily life...
  25. doi Skin problems of the stump in lower limb amputees: 1. A clinical study
    Henk E J Meulenbelt
    Department of Rehabilitation Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Acta Derm Venereol 91:173-7. 2011
    ..Significantly more skin problems were reported than observed (p = 0.011). Cold skin and excessive perspiration in particular were significantly more reported than observed...
  26. ncbi [Diagnostic image. A pregnant female with blisters]
    Jorrit B Terra
    Universitair Medisch Centrum Groningen, afd Dermatologie, Groningen, The Netherlands
    Ned Tijdschr Geneeskd 153:B36. 2009
    ..A 37-year-old woman, 28 weeks pregnant, presented with severe pruritic blisters due to pemphigoid gestationis...
  27. doi Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen
    Antoni Gostyński
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Exp Dermatol 23:130-2. 2014
    ..Reversions of LAMB3 and COL7A1 in keratinocytes did not influence clinical pigmentation or density of melanocytes. We conclude that in human skin, melanocyte supply to the epidermis depends on C17 expression in keratinocytes. ..
  28. doi Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa
    Wing Yan Yuen
    Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    J Am Acad Dermatol 68:93-7, 97.e1-2. 2013
    ..Patients with laminin-332-deficient non-Herlitz junctional EB (JEB-nH) can have impaired wound healing witnessed by persistent, small, deep ulcers on the hands and feet that adversely affect the quality of life...
  29. doi Staphylococcal scalded skin syndrome: loss of desmoglein 1 in patient skin
    A Susanne Aalfs
    Centre for Blistering Diseases, Department of Dermatology, University Medical Centre Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Dermatol 20:451-6. 2010
    ..This raises the question if other toxins and/or other bacteria than Staphylococcus aureus might also induce SSSS...
  30. ncbi Anti-epiligrin cicatricial pemphigoid and epidermolysis bullosa acquisita: differentiation by use of indirect immunofluorescence microscopy
    Robert M Vodegel
    Department of Dermatology, Groningen University Hospital, The Netherlands
    J Am Acad Dermatol 48:542-7. 2003
    ....
  31. ncbi Basement membrane reconstruction in human skin equivalents is regulated by fibroblasts and/or exogenously activated keratinocytes
    Abdoelwaheb El Ghalbzouri
    Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands
    J Invest Dermatol 124:79-86. 2005
    ....
  32. ncbi Bullous pemphigoid as pruritus in the elderly: a common presentation
    Christiaan V Bakker
    Center for Skin Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    JAMA Dermatol 149:950-3. 2013
    ..Clinical observations in these patients have varied from eczematous or urticarial to papular or nodular skin lesions. Here we investigated the spectrum of clinical variants...
  33. ncbi Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex
    Marcel F Jonkman
    Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    J Invest Dermatol 119:1275-81. 2002
    ....
  34. ncbi Abundance of the long pentraxin PTX3 at sites of leukocytoclastic lesions in patients with small-vessel vasculitis
    Andre P van Rossum
    University Medical Centre Groningen, Groningen, The Netherlands
    Arthritis Rheum 54:986-91. 2006
    ..We therefore hypothesized that PTX3 accumulates at sites of leukocytoclastic vasculitis and, as such, is a key factor for the induction of leukocytoclasis...
  35. doi Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care
    José C Duipmans
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Dermatol Clin 28:383-6, xiii. 2010
    ..The possibility of rapid diagnosis, the efficient carrousel-like clinics, and the continuity in care are typical elements of the Dutch method of delivering interdisciplinary EB care...
  36. doi Epidermolysis bullosa in the Netherlands
    José C Duipmans
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Dermatol Clin 28:411-3, xv. 2010
    ..This article includes a list of resources for patients with epidermolysis bullosa in the Netherlands...
  37. ncbi Health-related Quality of Life in Epidermolysis Bullosa: Validation of the Dutch QOLEB Questionnaire and Assessment in the Dutch Population
    Wing Yan Yuen
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, NL 9700 RB Groningen, PO Box 30 001, The Netherlands
    Acta Derm Venereol 94:442-7. 2014
    ..The internal consistency was excellent (α = 0.905), and the test-retest reliability strong (ρs = 0.88). In conclusion, the Dutch QOLEB is a reliable and valid instrument for the assessment of the HRQoL in adult EB patients. ..
  38. pmc Experimental human cell and tissue models of pemphigus
    Gerda van der Wier
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, P O Box 30001, 9700 RB Groningen, The Netherlands
    Dermatol Res Pract 2010:143871. 2010
    ..Reconstituted skin is a relatively new model that approaches organ culture. In models of human skin grafted on mice, acantholysis can be studied in actual human skin but now with all the advantages of an animal model...
  39. doi The histopathological spectrum of acute generalized exanthematous pustulosis (AGEP) and its differentiation from generalized pustular psoriasis
    Sylvia H Kardaun
    Department of Dermatology, Reference Center for Cutaneous Adverse Drug Reactions, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands
    J Cutan Pathol 37:1220-9. 2010
    ..We present a systematic description of the histopathological spectrum of AGEP and GPP with a focus on discriminating features...
  40. doi Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviews
    Corinne van Scheppingen
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, Goningen, The Netherlands
    Acta Derm Venereol 88:143-50. 2008
    ..Both groups had difficulties with participation, the visibility of their disease and the feeling of being different...
  41. ncbi Clouston syndrome can mimic pachyonychia congenita
    Maurice A M van Steensel
    Department of Dermatology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    J Invest Dermatol 121:1035-8. 2003
    ..This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome...
  42. doi Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature
    Wing Yan Yuen
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Am Acad Dermatol 65:780-9. 2011
    ..The risk of developing SCC among patients with junctional epidermolysis bullosa (JEB) is unclear from the literature; however, in our center we noticed an unexpected number of SCCs among adult patients with JEB...
  43. ncbi Randomized controlled trial of adjuvant oral dexamethasone pulse therapy in pemphigus vulgaris: PEMPULS trial
    Leon F Mentink
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Arch Dermatol 142:570-6. 2006
    ..To determine the therapeutic effect of adjuvant dexamethasone pulse therapy when given in addition to conventional treatment of pemphigus vulgaris...
  44. ncbi Trichostasis spinulosa: itchy follicular papules in young adults
    Michiel A Strobos
    Department of Dermatology, Groningen University Hospital, Groningen, The Netherlands
    Int J Dermatol 41:643-6. 2002
    ..Here we present the microscopic study of the pruritic variant of trichostasis spinulosa in two patients and provide a review of the literature...
  45. ncbi IgA-mediated epidermolysis bullosa acquisita: two cases and review of the literature
    Robert M Vodegel
    Center for Blistering Skin Diseases, Department of Dermatology, Groningen University Hospital, The Netherlands
    J Am Acad Dermatol 47:919-25. 2002
    ..Only a minority of the patients with IgA-EBA showed milia or scarring or had therapy-resistant ocular symptoms as in the mechanobullous type of IgG-EBA. Most patients with IgA-EBA responded to dapsone therapy...
  46. ncbi Dysfunction of keratinocyte adhesion
    Marcel F Jonkman
    Department of Dermatology, University Hospital Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Exp Dermatol 13:654-5. 2004
  47. doi The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    Jo David Fine
    Vanderbilt University School of Medicine, Nashville, Tennessee National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA
    J Am Acad Dermatol 58:931-50. 2008
    ..At the same time, new epidermolysis bullosa (EB) subtypes have been described and similarities with some other diseases have been identified...
  48. ncbi Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
    Petra H L Schuilenga-Hut
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Hum Mutat 21:447. 2003
    ....
  49. ncbi Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
    Petra H L Schuilenga-Hut
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 118:626-30. 2002
    ..We hypothesize that a second somatic modulating factor in the genome that affects the processing of the mutant KRT14 pre-mRNA may underlie this phenomenon...
  50. ncbi Transition of pemphigus vulgaris into pemphigus foliaceus confirmed by antidesmoglein ELISA profile
    Gábor G Tóth
    Int J Dermatol 41:525-7. 2002
  51. ncbi Dexamethasone pharmacokinetics after high-dose oral therapy for pemphigus
    Gábor G Tóth
    Ann Pharmacother 36:1108-9. 2002
  52. ncbi Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects
    Dedee F Murrell
    J Invest Dermatol 127:1772-5. 2007
  53. pmc Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress
    Jose Ramos-Castaneda
    Division of Metabolism, Endocrinology, and Diabetes, University of Michigan Medical School, Ann Arbor Michigan 48109, USA
    J Biol Chem 280:9467-73. 2005
    ..However, deficiency of ATP2C1 renders cells hypersensitive to ER stress. These data point to the important contributions of the Golgi-localized ATP2C1 protein in homeostatic maintenance throughout the secretory pathway...