A perilous path: the inborn errors of sphingolipid metabolism

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

(2019) Devesh C. Pant et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

(2018) D. Monies et al.   CLINICAL GENETICS

Perspective: Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope

(2018) Debra Crumrine et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

(2017) Andreas R. Janecke et al.   HUMAN MUTATION

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

(2017) Rathi Prasad et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

(2017) Svjetlana Lovric et al.   JOURNAL OF CLINICAL INVESTIGATION

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

(2017) Takuya Takeichi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Sphingolipids and their metabolism in physiology and disease

(2017) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

GM3 synthase deficiency due toST3GAL5variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

(2016) Jin Sook Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages

(2015) Elma Aflaki et al.   AGING CELL

HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship

(2015) Heiko Bode et al.   HUMAN MOLECULAR GENETICS

Emerging biology of sphingosine-1-phosphate: its role in pathogenesis and therapy

(2015) Richard L. Proia et al.   JOURNAL OF CLINICAL INVESTIGATION

Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain

(2015) Kai Wang et al.   PLoS Genetics

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Thematic review series: Recent advances in the treatment of lysosomal storage diseases

(2014) James A. Shayman   JOURNAL OF LIPID RESEARCH

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ceramide synthesis in the epidermis

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

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

(2013) Gaurav V. Harlalka et al.   BRAIN

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

(2013) Luigi Boccuto et al.   HUMAN MOLECULAR GENETICS

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 Sphingolipid Synthesis in the Respiratory Tract Induces Airway Hyperreactivity

(2013) T. S. Worgall et al.   Science Translational Medicine

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

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

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-  Peptide

(2012) S. Keilani et al.   JOURNAL OF NEUROSCIENCE

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

The Sjögren-Larsson Syndrome Gene Encodes a Hexadecenal Dehydrogenase of the Sphingosine 1-Phosphate Degradation Pathway

(2012) Kanae Nakahara et al.   MOLECULAR CELL

Sphingolipid and Glycosphingolipid Metabolic Pathways in the Era of Sphingolipidomics

(2011) Alfred H. Merrill   CHEMICAL REVIEWS

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

(2010) Annelies Rotthier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Disease-causing Mutation in the Active Site of Serine Palmitoyltransferase Causes Catalytic Promiscuity

(2010) Kenneth Gable et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

(2010) Anke Penno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Membranes in Balance: Mechanisms of Sphingolipid Homeostasis

(2010) David K. Breslow et al.   MOLECULAR CELL

Orm family proteins mediate sphingolipid homeostasis

(2010) David K. Breslow et al.   NATURE

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

(2010) Dermot P B McGovern et al.   NATURE GENETICS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate

(2008) C MAO   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

(2008) T. Pan et al.   BRAIN

Sphingolipids, Insulin Resistance, and Metabolic Disease: New Insights fromin VivoManipulation of Sphingolipid Metabolism

(2008) William L. Holland et al.   ENDOCRINE REVIEWS