Lipids and synaptic functions

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

(2017) Femke C. C. Klouwer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

(2017) Magali Pettazzoni et al.   PLoS One

Annotation of the human cerebrospinal fluid lipidome using high resolution mass spectrometry and a dedicated data processing workflow

(2016) Alexandre Seyer et al.   Metabolomics

Membrane Lipids in Presynaptic Function and Disease

(2016) Elsa Lauwers et al.   NEURON

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

(2016) E. Cortès-Saladelafont et al.   Seminars in Pediatric Neurology

Polyphosphoinositide binding domains: Key to inositol lipid biology

(2015) Gerald R.V. Hammond et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Neuroaxonal dystrophy inPLA2G6knockout mice

(2015) Hisae Sumi-Akamaru et al.   NEUROPATHOLOGY

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

An overview of inborn errors of complex lipid biosynthesis and remodelling

(2014) Foudil Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

(2014) Àngels Garcia-Cazorla et al.   JOURNAL OF INHERITED METABOLIC DISEASE

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

(2014) M.A. Illingworth et al.   MOLECULAR GENETICS AND METABOLISM

The Role of Phosphoinositides in Synapse Function

(2014) Yoshibumi Ueda   MOLECULAR NEUROBIOLOGY

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

(2014) Koji M. Nishiguchi et al.   OPHTHALMOLOGY

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

(2014) Mai-Britt Mosbech et al.   Annals of Clinical and Translational Neurology

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

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

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

(2013) Matthis Synofzik et al.   BRAIN

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

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 DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers 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

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

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

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

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

(2010) Torunn Fiskerstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Flip-Flop-Induced Relaxation of Bending Energy: Implications for Membrane Remodeling

(2009) R.J. Bruckner et al.   BIOPHYSICAL JOURNAL

Evidence that Electrostatic Interactions between Vesicle-associated Membrane Protein 2 and Acidic Phospholipids May Modulate the Fusion of Transport Vesicles with the Plasma Membrane

(2009) Dumaine Williams et al.   MOLECULAR BIOLOGY OF THE CELL

Sphingosine Facilitates SNARE Complex Assembly and Activates Synaptic Vesicle Exocytosis

(2009) Frédéric Darios et al.   NEURON

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

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

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY