(Q33417443)

26 July 2017

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids (English)

1 reference

26 July 2017

Ligia Almeida

3

0 references

Arjan P M de Brouwer

7

object named as

Arjan P M de Brouwer

1 reference

26 July 2017

8

Ron A Wevers

1 reference

26 July 2017

Saskia B Wortmann

1

1 reference

26 July 2017

Marc Espeel

2

1 reference

26 July 2017

Annette Reimer

4

1 reference

26 July 2017

Dennis Bosboom

5

1 reference

26 July 2017

Frank Roels

6

1 reference

26 July 2017

2 September 2014

1 reference

Journal of Inherited Metabolic Disease

26 July 2017

1 reference

26 July 2017

38

1 reference

26 July 2017

1

1 reference

26 July 2017

99-110

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-014-9759-7

26 July 2017

0 references

cites work

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Defining the importance of phosphatidylserine synthase 2 in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Mitochondrial diacylglycerol initiates protein-kinase D1-mediated ROS signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Nicotine acts on growth plate chondrocytes to delay skeletal growth through the alpha7 neuronal nicotinic acetylcholine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Lipid metabolism in mitochondrial membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor involved in coat protein complex I- and Rab6-independent retrograde transport between the endoplasmic reticulum and the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

STEC-HUS, atypical HUS and TTP are all diseases of complement activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Microsomal omega-hydroxylated metabolites of N-arachidonoyl dopamine are active at recombinant human TRPV1 receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

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%2FS10545-014-9759-7

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%2FS10545-014-9759-7

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

20-Hydroxyeicosatetraenoic acid (20-HETE) is a novel activator of transient receptor potential vanilloid 1 (TRPV1) channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

The 3-methylglutaconic acidurias: what's new?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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%2FS10545-014-9759-7

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

Bacterial inhibition of phosphatidylcholine synthesis triggers apoptosis in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9759-7

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

21 January 2018

1 reference

12 December 2020

Neuroradiologic findings in Sengers syndrome

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

1 reference

12 December 2020

Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells

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

Phenotypic expansion of DGKE-associated diseases

1 reference

12 December 2020

10.1007/S10545-014-9759-7

Identifiers

DOI

1 reference

Dimensions Publication ID

26 July 2017

1038239833

0 references

Fatcat ID

release_aiieajcubrc5rjlsvlbro5ddhe

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aiieajcubrc5rjlsvlbro5ddhe

24 November 2022

mapped directly with Wikidata item

1 reference