ICHTHYOSIS (LAMELLAR ICHTHYOSIS AND SJOGREN-LARSSON SYNDROME): CHARACTERIZATION OF THE MOLECULAR DEFECT

Scientific Publications

• 1998 JOURNAL OF BIOLOGICAL CHEMISTRY

  Transglutaminase 1 mutations in lamellar ichthyosis - Loss of activity due to failure of activation by proteolytic processing

• 1999 CANCER GENETICS AND CYTOGENETICS

  Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis

• 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY

  Sjogren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

• 1997 GENOMICS

  Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

• 1997 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes