An overview of inborn errors of complex lipid biosynthesis and remodelling (Q38252662)

1 September 2017

An overview of inborn errors of complex lipid biosynthesis and remodelling (English)

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1 September 2017

Foudil Lamari

1

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1 September 2017

Fanny Mochel

series ordinal

2

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1 September 2017

Jean-Marie Saudubray

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3

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1 September 2017

20 September 2014

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Journal of Inherited Metabolic Disease

1 September 2017

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1 September 2017

38

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1 September 2017

1

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1 September 2017

3-18

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9764-x

1 September 2017

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Hepatic diseases related to triglyceride metabolism.

21 January 2018

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ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts

21 January 2018

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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

21 January 2018

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Expression and characterization of the active molecular forms of choline/ethanolamine kinase-alpha and -beta in mouse tissues, including carbon tetrachloride-induced liver

21 January 2018

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Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics

21 January 2018

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Phosphoinositides: tiny lipids with giant impact on cell regulation

21 January 2018

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

21 January 2018

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Defective presynaptic choline transport underlies hereditary motor neuropathy.

21 January 2018

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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

21 January 2018

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

21 January 2018

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Functions and biosynthesis of plasmalogens in health and disease.

21 January 2018

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Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

21 January 2018

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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

21 January 2018

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Diacylglycerol, when simplicity becomes complex.

21 January 2018

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Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

21 January 2018

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

21 January 2018

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Enzymes of triacylglycerol synthesis and their regulation

21 January 2018

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Regulation of CTP:phosphocholine cytidylyltransferase by amphitropism and relocalization

21 January 2018

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

21 January 2018

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Enrichment of phosphatidylinositols with specific acyl chains

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

21 January 2018

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A comprehensive classification system for lipids

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

The outer frontier: the importance of lipid metabolism in the skin

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

A novel Refsum-like disorder that maps to chromosome 20.

21 January 2018

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Tafazzin senses curvature

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

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Neurodegeneration associated with genetic defects in phospholipase A(2).

21 January 2018

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Principles of bioactive lipid signalling: lessons from sphingolipids

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mitochondrial fatty acid synthesis and respiration

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Fatty acid elongases in mammals: their regulation and roles in metabolism

21 January 2018

1 reference

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

21 January 2018

1 reference

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Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

21 January 2018

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A view on sphingolipids and disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

The glycosylphosphatidylinositol anchor: a complex membrane-anchoring structure for proteins

21 January 2018

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

21 January 2018

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Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Role of phosphatidyl-serine in bone repair and its technological exploitation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Congenital myopathy is caused by mutation of HACD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Regulation of osteoclasts by membrane-derived lipid mediators

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Sphingolipid lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Lipidomics reveals a remarkable diversity of lipids in human plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Targeting protein lipidation in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

The long and short of fatty acid synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

The intracellular dynamic of protein palmitoylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

An update on serine deficiency disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Human metabolism of phytanic acid and pristanic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Plasmalogens the neglected regulatory and scavenging lipid species

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Phytanic acid metabolism in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9764-X

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

21 January 2018

1 reference

12 December 2020

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

1 reference

12 December 2020

Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions

1 reference

12 December 2020

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

1 reference

12 December 2020

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

1 reference

12 December 2020

Neurodegeneration with brain iron accumulation

1 reference

12 December 2020

Fatty-acid-responsive alopecia in multiple carboxylase deficiency

1 reference

12 December 2020

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

1 reference

12 December 2020

ELOVL5 mutations cause spinocerebellar ataxia 38

1 reference

12 December 2020

10.1007/S10545-014-9764-X

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DOI

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Dimensions Publication ID

1 September 2017

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