A novel in situ method for the detection of deficient transglutaminase activity in the skin

Michael Raghunath, Hans Christian Hennies, Florian Velten, Victor Wiebe, Peter M. Steinert, Andre Reis, Heiko Traupe

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.

Original languageEnglish
Pages (from-to)621-627
Number of pages7
JournalArchives of Dermatological Research
Volume290
Issue number11
DOIs
Publication statusPublished - Nov 1998
Externally publishedYes

Fingerprint

Transglutaminases
Skin
Enzymes
Lamellar Ichthyosis
Ichthyosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Enzyme Assays
Peptides
Mutation
transglutaminase 1
Antibodies
Genes
Proteins

Cite this

Raghunath, Michael ; Hennies, Hans Christian ; Velten, Florian ; Wiebe, Victor ; Steinert, Peter M. ; Reis, Andre ; Traupe, Heiko. / A novel in situ method for the detection of deficient transglutaminase activity in the skin. In: Archives of Dermatological Research. 1998 ; Vol. 290, No. 11. pp. 621-627.
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abstract = "Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.",
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A novel in situ method for the detection of deficient transglutaminase activity in the skin. / Raghunath, Michael; Hennies, Hans Christian; Velten, Florian; Wiebe, Victor; Steinert, Peter M.; Reis, Andre; Traupe, Heiko.

In: Archives of Dermatological Research, Vol. 290, No. 11, 11.1998, p. 621-627.

Research output: Contribution to journalArticle

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T1 - A novel in situ method for the detection of deficient transglutaminase activity in the skin

AU - Raghunath, Michael

AU - Hennies, Hans Christian

AU - Velten, Florian

AU - Wiebe, Victor

AU - Steinert, Peter M.

AU - Reis, Andre

AU - Traupe, Heiko

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AB - Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.

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KW - Histochemistry

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