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

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

Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides

(2016) Akio Kihara   PROGRESS IN LIPID RESEARCH

High-throughput synthesis of stable isotope-labeled transmembrane proteins for targeted transmembrane proteomics using a wheat germ cell-free protein synthesis system

(2015) Nobuaki Takemori et al.   Molecular BioSystems

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

Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology

(2014) Takayuki Sassa et al.   Biomolecules & Therapeutics

The ligand binding ability of dopamine D1 receptors synthesized using a wheat germ cell-free protein synthesis system with liposomes

(2014) Eiji Arimitsu et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

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 important role of stratum corneum lipids for the cutaneous barrier function

(2013) J. van Smeden et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The role of sphingolipid metabolism in cutaneous permeabilitybarrier formation

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

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

(2013) L. Fachal et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Impaired Epidermal Permeability Barrier in Mice Lacking Elovl1, the Gene Responsible for Very-Long-Chain Fatty Acid Production

(2013) T. Sassa et al.   MOLECULAR AND CELLULAR BIOLOGY

Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells

(2013) Ping-An Chang et al.   MOLECULAR BIOLOGY REPORTS

Very long-chain fatty acids: elongation, physiology and related disorders

(2012) A. Kihara   JOURNAL OF BIOCHEMISTRY

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

(2012) Anaïs Grall et al.   NATURE GENETICS

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

(2011) Shirli Israeli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Loss of ceramide synthase 3 causes lethal skin barrier disruption

(2011) Richard Jennemann et al.   HUMAN MOLECULAR GENETICS

Changes in the Ceramide Profile of Atopic Dermatitis Patients

(2010) Junko Ishikawa et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis

(2010) Y. Ohno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ceramide biosynthesis in keratinocyte and its role in skin function

(2009) Yukiko Mizutani et al.   BIOCHIMIE

Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase

(2008) Tomohiro Yamaguchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

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

Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions

(2008) Petra C. Kienesberger et al.   JOURNAL OF LIPID RESEARCH