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

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

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

Disorder of Endothelia Vessels' Functional State with Malignant Tumors in Patients Exposed Anthropogenic Radiation

(2016) Laura Pak et al.   Asian Pacific Journal of Cancer Prevention

Stratum corneum lipid matrix: Location of acyl ceramide and cholesterol in the unit cell of the long periodicity phase

(2016) E.H. Mojumdar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Mutations inSDR9C7gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

(2016) Yohya Shigehara et al.   HUMAN MOLECULAR GENETICS

Inherited ichthyosis: Non-syndromic forms

(2016) Takuya Takeichi et al.   JOURNAL OF DERMATOLOGY

100 PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of ϖ-O-acylceramides

(2016) S. Grond et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The role of epidermal sphingolipids in dermatologic diseases

(2016) Sonia Borodzicz et al.   Lipids in Health and Disease

Scalable Synthesis of Human Ultralong Chain Ceramides

(2015) Lukáš Opálka et al.   ORGANIC LETTERS

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

The important role of lipids in the epidermis and their role in the formation and maintenance of the cutaneous barrier

(2014) Kenneth Feingold et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mice deficient for the epidermal dermokine   and   isoforms display transient cornification defects

(2014) E. A. Leclerc et al.   JOURNAL OF CELL SCIENCE

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

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

Ceramide synthesis in the epidermis

(2013) Mariona Rabionet 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

1-O-acylceramides are natural components of human and mouse epidermis

(2013) Mariona Rabionet et al.   JOURNAL OF LIPID RESEARCH

The structure and function of the stratum corneum

(2012) Gopinathan K. Menon et al.   INTERNATIONAL JOURNAL OF PHARMACEUTICS

Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation

(2012) Peter Krieg et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Collodion baby: An update with a focus on practical management

(2012) Renata Prado et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2012) Anaïs Grall et al.   NATURE GENETICS

Loss of ceramide synthase 3 causes lethal skin barrier disruption

(2011) Richard Jennemann et al.   HUMAN MOLECULAR GENETICS

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Interpreting Neonatal Lethal Phenotypes in Mouse Mutants: Insights Into Gene Function and Human Diseases

(2009) Benjamin Turgeon et al.   PHYSIOLOGICAL REVIEWS

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects

(2008) T. Yanagi et al.   HUMAN MOLECULAR GENETICS

The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

(2008) Martina Schweiger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Lack of the C-Terminal Domain of Adipose Triglyceride Lipase Causes Neutral Lipid Storage Disease through Impaired Interactions with Lipid Droplets

(2008) Kunihisa Kobayashi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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