Reference on EC 2.3.1.296 - omega-hydroxyceramide transacylase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Hirabayashi, T.; Murakami, M.; Kihara, A.
The role of PNPLA1 in omega-O-acylceramide synthesis and skin barrier function
Biochim. Biophys. Acta
1864
869-879
2019
Homo sapiens
Pichery, M.; Huchenq, A.; Sandhoff, R.; Severino-Freire, M.; Zaafouri, S.; Opalka, L.; Levade, T.; Soldan, V.; Bertrand-Michel, J.; Lhuillier, E.; Serre, G.; Maruani, A.; Mazereeuw-Hautier, J.; Jonca, N.
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier
Hum. Mol. Genet.
26
1787-1800
2017
Mus musculus, Homo sapiens (Q8N8W4), Homo sapiens
Ohno, Y.; Nara, A.; Nakamichi, S.; Kihara, A.
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5
J. Dermatol. Sci.
92
245-253
2018
Homo sapiens
Kien, B.; Grond, S.; Haemmerle, G.; Lass, A.; Eichmann, T.O.; Radner, F.P.W.
ABHD5 stimulates PNPLA1-mediated omega-O-acylceramide biosynthesis essential for a functional skin permeability barrier
J. Lipid Res.
59
2360-2367
2018
Homo sapiens, Mus musculus
Hirabayashi, T.; Anjo, T.; Kaneko, A.; Senoo, Y.; Shibata, A.; Takama, H.; Yokoyama, K.; Nishito, Y.; Ono, T.; Taya, C.; Muramatsu, K.; Fukami, K.; Munoz-Garcia, A.; Brash, A.R.; Ikeda, K.; Arita, M.; Akiyama, M.; Murakami, M.
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
Nat. Commun.
8
14609
2017
Mus musculus
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