Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5-Reference-Cited by-同舟云学术

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Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5

Published:2018-12 Issue:3 Volume:92 Page:245-253
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Ohno Yusuke,Nara Atsuki,Nakamichi Shota,Kihara Akio

Funder

Advanced Research and Development Programs for Medical Innovation

Japan Agency for Medical Research and DevelopmentJapan Agency for Medical Research and Development (AMED)

Japan Society for the Promotion of ScienceJapan Society for the Promotion of Science (JSPS)

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference30 articles.

1. An update on molecular aspects of the non-syndromic ichthyoses;Akiyama;Exp. Dermatol.,2008

2. Changes in the ceramide profile of atopic dermatitis patients;Ishikawa;J. Invest. Dermatol.,2010

3. Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides;Kihara;Prog. Lipid Res.,2016

4. Role of lipids in the formation and maintenance of the cutaneous permeability barrier;Feingold;Biochim. Biophys. Acta,2014

5. The role of sphingolipid metabolism in cutaneous permeability barrier formation;Breiden;Biochim. Biophys. Acta,2014

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1. Alteration of epidermal lipid composition as a result of deficiency in the magnesium transporter Nipal4;Journal of Lipid Research;2024-06

2. Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis;Biomedicines;2024-05-17

3. The fatty acid omega hydroxylase genes (CYP4 family) in the progression of metabolic dysfunction-associated steatotic liver disease (MASLD): An RNA sequence database analysis and review;Biochemical Pharmacology;2024-05

4. Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction;American Journal of Medical Genetics Part A;2023-11-20

5. The PNPLA family of enzymes: characterisation and biological role;Archives of Industrial Hygiene and Toxicology;2023-06-01

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