Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Glycosphingolipids Are Essential for Intestinal Endocytic Function

(2012) Richard Jennemann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Loss of ceramide synthase 3 causes lethal skin barrier disruption

(2011) Richard Jennemann et al.   HUMAN MOLECULAR GENETICS

Complex Networks Govern Coiled-Coil Oligomerization – Predicting and Profiling by Means of a Machine Learning Approach

(2011) Carsten C. Mahrenholz et al.   MOLECULAR & CELLULAR PROTEOMICS

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

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ceramide biosynthesis in keratinocyte and its role in skin function

(2009) Yukiko Mizutani et al.   BIOCHIMIE

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

Autosomal Recessive Congenital Ichthyosis

(2009) Judith Fischer   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Male Germ Cells Require Polyenoic Sphingolipids with Complex Glycosylation for Completion of Meiosis

(2008) Mariona Rabionet et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

2-Hydroxy-ceramide synthesis by ceramide synthase family: enzymatic basis for the preference of FA chain length

(2008) Yukiko Mizutani et al.   JOURNAL OF LIPID RESEARCH