An overview of inborn errors of complex lipid biosynthesis and remodelling

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

(2014) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Guilherme L. Yamamoto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Julie Hoover-Fong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

(2014) Hina Mir et al.   BMC Medical Genetics

Phosphatidic Acid (PA)-preferring Phospholipase A1Regulates Mitochondrial Dynamics

(2014) Takashi Baba et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

(2014) Emmanuel Martin et al.   NATURE

Expanding the Clinical Phenotype Associated WithELOVL4Mutation

(2014) Maxime Cadieux-Dion et al.   JAMA Neurology

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

(2013) Sabrina Dusi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

(2013) Ofer Sarig et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enrichment of phosphatidylinositols with specific acyl chains

(2013) Kenneth D'Souza et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Fatty aldehyde and fatty alcohol metabolism: Review and importance for epidermal structure and function

(2013) William B. Rizzo   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Regulation of osteoclasts by membrane-derived lipid mediators

(2013) Tsukasa Oikawa et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Congenital myopathy is caused by mutation of HACD1

(2013) Emad Muhammad et al.   HUMAN MOLECULAR GENETICS

An update on serine deficiency disorders

(2013) S. N. van der Crabben et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

(2013) Andrea Citterio et al.   JOURNAL OF NEUROLOGY

Phosphatidylserine enhances osteogenic differentiation in human mesenchymal stem cells via ERK signal pathways

(2013) Caixia Xu et al.   Materials Science & Engineering C-Materials for Biological Applications

Hepatic Diseases Related to Triglyceride Metabolism

(2013) Asdrubal Aguilera-Méndez et al.   MINI-REVIEWS IN MEDICINAL CHEMISTRY

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

(2013) Mathieu Lemaire et al.   NATURE GENETICS

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

(2013) Sérgio B Sousa et al.   NATURE GENETICS

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

(2013) Yohan Soreze et al.   Orphanet Journal of Rare Diseases

Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation

(2013) Tamas Balla   PHYSIOLOGICAL REVIEWS

Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling

(2013) Lauren S. Csaki et al.   PROGRESS IN LIPID RESEARCH

Phosphatidylinositol-3-phosphate regulates sorting and processing of amyloid precursor protein through the endosomal system

(2013) Etienne Morel et al.   Nature Communications

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

(2012) Katy E.S. Barwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

(2012) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

(2012) Jennifer E. Below et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

(2012) Jean E. Vance et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p

(2012) Hiroki Inoue et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

(2012) Caroline Michot et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tafazzin senses curvature

(2012) Klaus Gawrisch   Nature Chemical Biology

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

(2012) Anaïs Grall et al.   NATURE GENETICS

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency

(2012) Laurent R. Chiarelli et al.   PLoS One

Targeting protein lipidation in disease

(2012) Marilyn D. Resh   TRENDS IN MOLECULAR MEDICINE

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

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

(2011) Satomi Mitsuhashi 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

Phytanic acid metabolism in health and disease

(2011) Ronald J.A. Wanders et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Plasmalogens the neglected regulatory and scavenging lipid species

(2011) Stefan Wallner et al.   CHEMISTRY AND PHYSICS OF LIPIDS

A view on sphingolipids and disease

(2011) Thomas Kolter   CHEMISTRY AND PHYSICS OF LIPIDS

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

(2011) Gabriella Esposito et al.   HUMAN MUTATION

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Mitochondrial fatty acid synthesis and respiration

(2010) J. Kalervo Hiltunen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

(2010) Masashi Akiyama   HUMAN MUTATION

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

(2010) Caroline Michot et al.   HUMAN MUTATION

The intracellular dynamic of protein palmitoylation

(2010) Christine Salaun et al.   JOURNAL OF CELL BIOLOGY

Lipidomics reveals a remarkable diversity of lipids in human plasma,

(2010) Oswald Quehenberger et al.   JOURNAL OF LIPID RESEARCH

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

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

RELAPSING RHABDOMYOLYSIS DUE TO PEROXISOMAL  -METHYLACYL-COA RACEMASE DEFICIENCY

(2010) V. Kapina et al.   NEUROLOGY

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

(2010) H. Yoshino et al.   NEUROLOGY

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

(2009) Robert S. Molday et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Phospholipid meets all-trans-retinal: the making of RPE bisretinoids

(2009) Janet R. Sparrow et al.   JOURNAL OF LIPID RESEARCH

Role of Phosphatidyl-Serine in Bone Repair and Its Technological Exploitation

(2009) Antonio Merolli et al.   MOLECULES

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

(2008) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Glycosylphosphatidylinositol Anchor: A Complex Membrane-Anchoring Structure for Proteins†

(2008) Margot G. Paulick et al.   BIOCHEMISTRY

The outer frontier: the importance of lipid metabolism in the skin: Fig. 1.

(2008) Kenneth R. Feingold   JOURNAL OF LIPID RESEARCH

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A novel Refsum-like disorder that maps to chromosome 20

(2008) T. Fiskerstrand et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Relapsing encephalopathy in a patient with  -methylacyl-CoA racemase deficiency

(2007) S A Thompson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY