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

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

(2012) Peter Huppke 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

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

(2012) Anaïs Grall et al.   NATURE GENETICS

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

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

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

(2011) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A view on sphingolipids and disease

(2011) Thomas Kolter   CHEMISTRY AND PHYSICS OF LIPIDS

Recent insights into the structure and function of comparative gene identification-58

(2011) Monika Oberer et al.   CURRENT OPINION IN LIPIDOLOGY

Making heads or tails of phospholipids in mitochondria

(2011) Christof Osman et al.   JOURNAL OF CELL BIOLOGY

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

(2011) Kevin Garofalo et al.   JOURNAL OF CLINICAL INVESTIGATION

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

(2011) Valerio Leoni et al.   MOLECULAR GENETICS AND METABOLISM

The Human Plasma Lipidome

(2011) Oswald Quehenberger et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

(2010) Susanne A. Schneider et al.   ANNALS OF NEUROLOGY

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

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

Cellular phospholipid uptake: Flexible paths to coregulate the functions of intracellular lipids

(2010) Bernd Engelmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

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

(2010) Caroline Michot et al.   HUMAN MUTATION

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

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

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Lipidomics reveals a remarkable diversity of lipids in human plasma,

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

Endocannabinoid Overload

(2010) A. H. Lichtman et al.   MOLECULAR PHARMACOLOGY

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

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

(2010) H. Yoshino et al.   NEUROLOGY

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

(2010) C. G. Steward et al.   PRENATAL DIAGNOSIS

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

The enigmatic role of tafazzin in cardiolipin metabolism

(2009) Riekelt H. Houtkooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Neuropathy target esterase: An essential enzyme for neural development and axonal maintenance

(2009) Ping-An Chang et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

CGI-58, the Causative Gene for Chanarin-Dorfman Syndrome, Mediates Acylation of Lysophosphatidic Acid

(2008) Ananda K. Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry

(2008) Robert-Jan Sanders et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

A novel Refsum-like disorder that maps to chromosome 20

(2008) T. Fiskerstrand et al.   NEUROLOGY

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

(2007) W. Kulik et al.   CLINICAL CHEMISTRY