ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier

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

(2017) Mélanie Pichery et al.   HUMAN MOLECULAR GENETICS

Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis

(2017) Masashi Akiyama   JOURNAL OF DERMATOLOGICAL SCIENCE

PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

(2017) Susanne Grond et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation

(2017) Susanne Grond et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide

(2017) Yusuke Ohno et al.   Nature Communications

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

(2017) Tetsuya Hirabayashi et al.   Nature Communications

Identification mouse patatin-like phospholipase domain containing protein 1 as a skin-specific and membrane-associated protein

(2016) Ping-An Chang et al.   GENE

Fatty Acid-binding Proteins Interact with Comparative Gene Identification-58 Linking Lipolysis with Lipid Ligand Shuttling

(2015) Peter Hofer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation

(2015) Yusuke Ohno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adipose triglyceride lipase activity is inhibited by long-chain acyl-coenzyme A

(2014) Harald M. Nagy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Formation and functions of the corneocyte lipid envelope (CLE)

(2013) Peter M. Elias et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Role of lipids in the formation and maintenance of the cutaneous permeability barrier

(2013) Kenneth R. Feingold et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier

(2013) Agustí Muñoz-Garcia et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The role of lipoxygenases in epidermis

(2013) Peter Krieg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function

(2013) Franz P.W. Radner et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

(2013) Katja-Martina Eckl et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

(2013) Franz P. W. Radner et al.   PLoS Genetics

Inherited ichthyoses/generalized Mendelian disorders of cornification

(2012) Matthias Schmuth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman–Chanarin Syndrome

(2010) Yoshikazu Uchida et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Lipolysis – A highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores

(2010) Achim Lass et al.   PROGRESS IN LIPID RESEARCH

Growth Retardation, Impaired Triacylglycerol Catabolism, Hepatic Steatosis, and Lethal Skin Barrier Defect in Mice Lacking Comparative Gene Identification-58 (CGI-58)

(2009) Franz P. W. Radner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The skin: an indispensable barrier

(2008) Ehrhardt Proksch et al.   EXPERIMENTAL DERMATOLOGY

Omega-O-acylceramide, a lipid essential for mammalian survival

(2008) Yoshikazu Uchida et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Thematic review series: Skin Lipids.Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

(2008) Peter M. Elias et al.   JOURNAL OF LIPID RESEARCH