Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis
form
S. Nigam, M. Zafiriou, R. Deva, N. Kerstin, C. Geilen, R. Ciccoli, M. Sczepanski, and M. Lohse. FEBS Lett, 582 (2):
279-85(January 2008)Nigam, Santosh Zafiriou, Maria-Patapia Deva, Rupal Kerstin, Nadja
Geilen, Christoph Ciccoli, Roberto Sczepanski, Marco Lohse, Maren
Research Support, Non-U.S. Gov't Netherlands FEBS letters FEBS Lett.
2008 Jan 23;582(2):279-85. Epub 2007 Dec 18..
Abstract
Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar
ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase
(12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3
lacks oxygenase activity, but is capable of forming hepoxilin-type
products from arachidonic acid-derived hydroperoxide from 12R-LOX,
termed 12R-hydroperoxyeicosa-5,8,10,14-tetraenoic acid (12R-HpETE).
Mutations in either of two enzymes lead to NCIE or LI. Moreover,
12R-LOX-deficient mice exhibit severe phenotypic water barrier dysfunctions.
Here, we demonstrate that 12R-HpETE can also be transformed to 8R-HXA(3)
by hepoxilin A(3) (HXA(3)) synthase (12-lipoxygenase), which exhibits
oxygenase activity. We also presented a novel form of ichthyosis
in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI),
whose scales expressed high levels of 12R-LOX, but were deficient
of HXA(3) synthase.
%0 Journal Article
%1 Nigam2008
%A Nigam, S.
%A Zafiriou, M. P.
%A Deva, R.
%A Kerstin, N.
%A Geilen, C.
%A Ciccoli, R.
%A Sczepanski, M.
%A Lohse, M.
%D 2008
%J FEBS Lett
%K 12-Lipoxygenase/*genetics/metabolism Aged Animals Arachidonate Base Chain Chromatography, Chromatography-Mass Congenital/*enzymology/genetics DNA Erythroderma, Gas High Humans Ichthyosiform Intramolecular Lipoxygenase/genetics Liquid Male Mice Middle Mutation Oxidoreductases/*genetics/metabolism Polymerase Pressure Primers Proteins/genetics Reaction Recombinant Reverse Sequence Spectrometry Transcriptase
%N 2
%P 279-85
%T Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis
form
%U http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18086569
%V 582
%X Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar
ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase
(12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3
lacks oxygenase activity, but is capable of forming hepoxilin-type
products from arachidonic acid-derived hydroperoxide from 12R-LOX,
termed 12R-hydroperoxyeicosa-5,8,10,14-tetraenoic acid (12R-HpETE).
Mutations in either of two enzymes lead to NCIE or LI. Moreover,
12R-LOX-deficient mice exhibit severe phenotypic water barrier dysfunctions.
Here, we demonstrate that 12R-HpETE can also be transformed to 8R-HXA(3)
by hepoxilin A(3) (HXA(3)) synthase (12-lipoxygenase), which exhibits
oxygenase activity. We also presented a novel form of ichthyosis
in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI),
whose scales expressed high levels of 12R-LOX, but were deficient
of HXA(3) synthase.
@article{Nigam2008,
abstract = {Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar
ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase
(12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3
lacks oxygenase activity, but is capable of forming hepoxilin-type
products from arachidonic acid-derived hydroperoxide from 12R-LOX,
termed 12R-hydroperoxyeicosa-5,8,10,14-tetraenoic acid (12R-HpETE).
Mutations in either of two enzymes lead to NCIE or LI. Moreover,
12R-LOX-deficient mice exhibit severe phenotypic water barrier dysfunctions.
Here, we demonstrate that 12R-HpETE can also be transformed to 8R-HXA(3)
by hepoxilin A(3) (HXA(3)) synthase (12-lipoxygenase), which exhibits
oxygenase activity. We also presented a novel form of ichthyosis
in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI),
whose scales expressed high levels of 12R-LOX, but were deficient
of HXA(3) synthase.},
added-at = {2010-12-14T18:12:02.000+0100},
author = {Nigam, S. and Zafiriou, M. P. and Deva, R. and Kerstin, N. and Geilen, C. and Ciccoli, R. and Sczepanski, M. and Lohse, M.},
biburl = {https://www.bibsonomy.org/bibtex/2b1b8db1b9b24aa0c50769cdb11b62036/pharmawuerz},
endnotereftype = {Journal Article},
interhash = {1363f4a240357c7eaf011236f3c6ce08},
intrahash = {b1b8db1b9b24aa0c50769cdb11b62036},
issn = {0014-5793 (Print) 0014-5793 (Linking)},
journal = {FEBS Lett},
keywords = {12-Lipoxygenase/*genetics/metabolism Aged Animals Arachidonate Base Chain Chromatography, Chromatography-Mass Congenital/*enzymology/genetics DNA Erythroderma, Gas High Humans Ichthyosiform Intramolecular Lipoxygenase/genetics Liquid Male Mice Middle Mutation Oxidoreductases/*genetics/metabolism Polymerase Pressure Primers Proteins/genetics Reaction Recombinant Reverse Sequence Spectrometry Transcriptase},
month = {Jan 23},
note = {Nigam, Santosh Zafiriou, Maria-Patapia Deva, Rupal Kerstin, Nadja
Geilen, Christoph Ciccoli, Roberto Sczepanski, Marco Lohse, Maren
Research Support, Non-U.S. Gov't Netherlands FEBS letters FEBS Lett.
2008 Jan 23;582(2):279-85. Epub 2007 Dec 18.},
number = 2,
pages = {279-85},
shorttitle = {Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis
form},
timestamp = {2010-12-14T18:12:26.000+0100},
title = {Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis
form},
url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18086569},
volume = 582,
year = 2008
}