Alain Hovnanian

Summary

Country: France

Publications

  1. ncbi request reprint LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
    Emmanuelle Bitoun
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 12:2417-30. 2003
  2. ncbi request reprint Calcium pump disorders of the skin
    Lucie Foggia
    Department of Medical Genetics, Pavillon Lefebvre, Purpan Hospital, Place du Dr Baylac, Toulouse cedex 03, France
    Am J Med Genet C Semin Med Genet 131:20-31. 2004
  3. ncbi request reprint SERCA pumps and human diseases
    A Hovnanian
    INSERM, U 563, Toulouse, F 31300 France
    Subcell Biochem 45:337-63. 2007
  4. pmc Harlequin ichthyosis unmasked: a defect of lipid transport
    Alain Hovnanian
    Department of Medical Genetics and INSERM U563, Purpan Hospital, Toulouse, France
    J Clin Invest 115:1708-10. 2005
  5. ncbi request reprint Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency
    Alain Hovnanian
    Department of Medical Genetics, INSERM U563 and University Paul Sabatier, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse, Cedex 03, France
    Biochem Biophys Res Commun 322:1237-44. 2004
  6. ncbi request reprint A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Hum Mutat 29:267-76. 2008
  7. doi request reprint Antisense-mediated exon skipping to reframe transcripts
    Sandrina Turczynski
    INSERM, U781, Paris, France
    Methods Mol Biol 867:221-38. 2012
  8. pmc SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Mol Ther 18:1509-18. 2010
  9. doi request reprint Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model
    Anaïs Briot
    INSERM, U563, Toulouse, France
    J Invest Dermatol 130:2736-42. 2010
  10. pmc Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
    Chrystelle Bonnart
    INSERM, U, Toulouse, France
    J Clin Invest 120:871-82. 2010

Collaborators

Detail Information

Publications33

  1. ncbi request reprint LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
    Emmanuelle Bitoun
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 12:2417-30. 2003
    ..The identification of novel processed forms of LEKTI provides the basis for future functional and structural studies of fragments with physiological relevance...
  2. ncbi request reprint Calcium pump disorders of the skin
    Lucie Foggia
    Department of Medical Genetics, Pavillon Lefebvre, Purpan Hospital, Place du Dr Baylac, Toulouse cedex 03, France
    Am J Med Genet C Semin Med Genet 131:20-31. 2004
    ..Although the precise disease mechanisms remain to be understood, these discoveries open a new field in research for the understanding and the treatment of these distressing disorders...
  3. ncbi request reprint SERCA pumps and human diseases
    A Hovnanian
    INSERM, U 563, Toulouse, F 31300 France
    Subcell Biochem 45:337-63. 2007
    ....
  4. pmc Harlequin ichthyosis unmasked: a defect of lipid transport
    Alain Hovnanian
    Department of Medical Genetics and INSERM U563, Purpan Hospital, Toulouse, France
    J Clin Invest 115:1708-10. 2005
    ..These results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder...
  5. ncbi request reprint Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency
    Alain Hovnanian
    Department of Medical Genetics, INSERM U563 and University Paul Sabatier, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse, Cedex 03, France
    Biochem Biophys Res Commun 322:1237-44. 2004
    ....
  6. ncbi request reprint A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Hum Mutat 29:267-76. 2008
    ..6). This is the first example of a modifier gene in RDEB and has implications for its prognosis and possible new treatments...
  7. doi request reprint Antisense-mediated exon skipping to reframe transcripts
    Sandrina Turczynski
    INSERM, U781, Paris, France
    Methods Mol Biol 867:221-38. 2012
    ..Using this gene as an example, we describe general methods that demonstrate the feasibility and efficacy of the antisense-mediated exon-skipping strategy to reframe transcripts...
  8. pmc SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Mol Ther 18:1509-18. 2010
    ....
  9. doi request reprint Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model
    Anaïs Briot
    INSERM, U563, Toulouse, France
    J Invest Dermatol 130:2736-42. 2010
    ..These include skin barrier impairment, mechanical stress secondary to stratum corneum detachment, as well as protease-induced proinflammatory and proallergic pathways, including PAR2-mediated overexpression of TSLP...
  10. pmc Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
    Chrystelle Bonnart
    INSERM, U, Toulouse, France
    J Clin Invest 120:871-82. 2010
    ..These results highlight the importance of the control of epidermal protease activity in skin homeostasis and designate ELA2 as a major protease driving the pathogenesis of NS...
  11. ncbi request reprint Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease
    Lucie Foggia
    INSERM U563, Purpan Hospital, Place du Dr Baylac, BP 2028, 31034 Toulouse CEDEX 3 and Université Paul Sabatier, 31062 Toulouse, France
    J Cell Sci 119:671-9. 2006
    ..Keratinocytes thus are unique among mammalian cells in their ability to use the Golgi Ca2+ store to mediate Ca2+ signaling...
  12. doi request reprint Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations
    Matthieu Lacroix
    INSERM U563, Toulouse, France
    J Invest Dermatol 132:575-82. 2012
    ..This new founder mutation, the most frequent mutation described in European populations so far, and these unusual intronic mutations, widen the clinical and molecular spectrum of NS and offer new diagnostic perspectives for NS patients...
  13. doi request reprint Darier disease : a disease model of impaired calcium homeostasis in the skin
    Magali Savignac
    INSERM, U563, Toulouse, F 31300, France
    Biochim Biophys Acta 1813:1111-7. 2011
    ..This article is part of a Special Issue entitled: 11th European Symposium on Calcium...
  14. pmc LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction
    Celine Deraison
    Institut National de la Sante et de la Recherche Medicale, U563, Toulouse, F 31300 France
    Mol Biol Cell 18:3607-19. 2007
    ..They disclose a new mechanism of skin homeostasis by which the epidermal pH gradient allows precisely regulated KLK5 activity and corneodesmosomal cleavage in the most superficial layers of the stratum corneum...
  15. ncbi request reprint Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing
    Matthias Titeux
    INSERM, U563, Toulouse, F 31059, France
    Hum Mutat 27:291-2. 2006
    ..This is consistent with the diagnosis of the moderately severe form of RDEB in the proband, at variance with the most severe form, RDEB Hallopeau-Siemens, that would arise from complete collagen VII deficiency...
  16. ncbi request reprint Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome
    Marie Florence Galliano
    INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse Cedex 3, France
    Genomics 85:483-92. 2005
    ..Our data indicate that mouse Spink5/Lekti, like its human counterpart, is involved in the control of epithelial tissue homeostasis, but also highlight specific features of the murine gene and protein...
  17. ncbi request reprint Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients
    Nicolas Chassaing
    INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F 31300 France
    Hum Mutat 28:1046. 2007
    ..This led to the detection of three large ABCC6 deletions, and two deletions of a single exon (exon 1 and exon 21). Thus QMPSF identified the causative mutation in 28% (5/18) of the uncharacterized ABCC6 mutant alleles in this cohort...
  18. ncbi request reprint Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene
    Matthias Titeux
    INSERM, U563, Toulouse, France
    J Invest Dermatol 126:773-6. 2006
    ..M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS...
  19. ncbi request reprint Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease
    J Dhitavat
    INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse Cedex 03, France
    Br J Dermatol 150:821-8. 2004
    ..We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes...
  20. pmc Up-regulation of transient receptor potential canonical 1 (TRPC1) following sarco(endo)plasmic reticulum Ca2+ ATPase 2 gene silencing promotes cell survival: a potential role for TRPC1 in Darier's disease
    Biswaranjan Pani
    Department of Biochemistry and Molecular Biology, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND 58202, USA
    Mol Biol Cell 17:4446-58. 2006
    ..We suggest that the anti-apoptotic effect of TRPC1 could potentially contribute to abnormal keratosis in DD...
  21. ncbi request reprint DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 127:568-73. 2007
    ..This report provides evidence for residual ABCA12 expression in HI, and demonstrates the efficiency of early DNA-based PD of HI...
  22. ncbi request reprint Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes
    Jittima Dhitavat
    The Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK
    J Invest Dermatol 121:1349-55. 2003
    ..We also demonstrate an interaction between SERCA2 and desmoplakin during differentiation. Our results provide further insights into the critical role of calcium ATPases in maintaining epidermal integrity...
  23. ncbi request reprint Mutations in the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease
    Jittima Dhitavat
    The Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK
    J Invest Dermatol 121:486-9. 2003
    ..This finding indicates that SERCA2b plays a key role in the biology of the epidermis, and its defects are sufficient to cause Darier's disease...
  24. ncbi request reprint Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease
    Jittima Dhitavat
    Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK
    J Invest Dermatol 120:229-32. 2003
    ..This result demonstrates loss of function of the sarco(endo)plasmic reticulum Ca2+ ATPase2 mutant in acrokeratosis verruciformis, thus providing evidence that acrokeratosis verruciformis and Darier's disease are allelic disorders...
  25. ncbi request reprint Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses
    Leonard Dode
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
    J Biol Chem 278:47877-89. 2003
    ..In this case, the disease may be a consequence of the low expression level and/or reduction of Ca2+ affinity and sensitivity to inhibition by lumenal Ca2+...
  26. ncbi request reprint TLR3 deficiency in patients with herpes simplex encephalitis
    Shen Ying Zhang
    Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale INSERM, U550, Faculty Necker, Paris 75015, France
    Science 317:1522-7. 2007
    ..Human TLR3 appears to be redundant in host defense to most microbes but is vital for natural immunity to HSV-1 in the CNS, which suggests that neurotropic viruses have contributed to the evolutionary maintenance of TLR3...
  27. ncbi request reprint SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing
    Alessandro Tartaglia-Polcini
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IDI IRCCS, Rome, Italy
    J Invest Dermatol 126:315-24. 2006
    ....
  28. ncbi request reprint Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea
    Kenshi Yamasaki
    Division of Dermatology, University of California, San Diego, and VA San Diego Health Care System, 3350 La Jolla Village Drive, San Diego, California 92161, USA
    Nat Med 13:975-80. 2007
    ..These findings confirm the role of cathelicidin in skin inflammatory responses and suggest an explanation for the pathogenesis of rosacea by demonstrating that an exacerbated innate immune response can reproduce elements of this disease...
  29. ncbi request reprint Stable integration of large PAC constructs in keratinocytes
    Sarah H Williams
    Pediatric Molecular Genetics, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK
    Methods Mol Biol 289:315-28. 2005
    ..Protocols to select for stable integrants and to assess the integration event(s) within the keratinocyte genome will also be provided...
  30. ncbi request reprint Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis
    Nicolas Chassaing
    J Invest Dermatol 126:2715-7. 2006
  31. ncbi request reprint Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
    Pascal Descargues
    Department of Functional Genetics of Epithelial Diseases, INSERM U563, Toulouse Cedex, France
    J Invest Dermatol 126:1622-32. 2006
    ..This work further supports the implication of premature corneodesmosomal cadherin degradation in the pathogenesis of NS and provides evidence for additional factors playing a role in disease expression...
  32. ncbi request reprint LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum
    Akemi Ishida-Yamamoto
    Department of Dermatology, Asahikawa Medical College, Midorigaoka Higashi 2 1 1 1, Asahikawa 078 8510, Japan
    J Invest Dermatol 124:360-6. 2005
    ..Our data provide new insights into the biological functions of LG and the pathogenesis of NS...
  33. ncbi request reprint A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line
    Sabine Mecklenbeck
    Department of Dermatology, University of Munster, Germany
    Hum Gene Ther 13:1655-62. 2002
    ..These data demonstrate a "proof of principle" for genomic DNA vectors as a means of restoring collagen VII production in RDEB-HS skin and help develop future gene therapy protocols...