(Q38241672)

31 August 2017

Human genetic disorders of sphingolipid biosynthesis (English)

1 reference

31 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Frédérique Sabourdy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nicole Therville

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Bruno Ségui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nathalie Andrieu-Abadie

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Heiko Bode

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Thorsten Hornemann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Thierry Levade

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

21 August 2014

1 reference

Journal of Inherited Metabolic Disease

31 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

65-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25141825%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-014-9736-1

4 June 2020

exact match

0 references

cites work

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Erythrocyte P antigen: cellular receptor for B19 parvovirus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A functional role for complex gangliosides: motor deficits in GM2/GD2 synthase knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

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%2FS10545-014-9736-1

The cellular pathology of lysosomal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

The marine compound spisulosine, an inhibitor of cell proliferation, promotes the disassembly of actin stress fibers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

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%2FS10545-014-9736-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Etiology of vision loss in ganglioside GM3 synthase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

The cell biology of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Additional molecular bases of the clinically important p blood group phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Loss of ceramide synthase 3 causes lethal skin barrier disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Transmembrane topology of ceramide synthase in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

The human P(k) histo-blood group antigen provides protection against HIV-1 infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

LASS3 (longevity assurance homologue 3) is a mainly testis-specific (dihydro)ceramide synthase with relatively broad substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Ceramide synthases at the centre of sphingolipid metabolism and biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Impairment of neuropsychological behaviors in ganglioside GM3-knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A critical role for ceramide synthase 2 in liver homeostasis: I. alterations in lipid metabolic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Central nervous system dysfunction in a mouse model of FA2H deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

CERKL knockdown causes retinal degeneration in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mechanisms of disease in hereditary sensory and autonomic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Functions of sphingolipid metabolism in mammals--lessons from genetic defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A novel GBA2 gene missense mutation in spastic ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Multi-system disorders of glycosphingolipid and ganglioside metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Enhanced insulin sensitivity in mice lacking ganglioside GM3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Ceramide synthase inhibition by fumonisin B1 causes accumulation of 1-deoxysphinganine: a novel category of bioactive 1-deoxysphingoid bases and 1-deoxydihydroceramides biosynthesized by mammalian cell lines and animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

Deoxysphingolipids, novel biomarkers for type 2 diabetes, are cytotoxic for insulin-producing cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9736-1

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

21 January 2018

1 reference

12 December 2020

Glycolipid binding of purified and recombinant Escherichia coli produced verotoxin in vitro.

1 reference

12 December 2020

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations

1 reference

12 December 2020

[Serological and genetic study of a pedigree featuring a rare p phenotype]

1 reference

12 December 2020

NOR polyagglutination and Sta glycophorin in one family: relation of NOR polyagglutination to terminal alpha-galactose residues and abnormal glycolipids

1 reference

12 December 2020

Novel Mutations in FA2H-Associated Neurodegeneration

1 reference

12 December 2020

[Pedigree investigation and genetic analysis of a case with p blood group].

1 reference

12 December 2020

One base deletion of the alpha(1,4) galactosyltransferase gene responsible for p phenotype

1 reference

12 December 2020

Mammalian ceramide synthases

1 reference

12 December 2020

An inherited RBC characteristic, NOR, resulting in erythrocyte polyagglutination

1 reference

12 December 2020

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

1 reference

12 December 2020

The longevity assurance homologue of yeast lag1 (Lass) gene family (review).

1 reference

12 December 2020

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems

1 reference

12 December 2020

Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency

1 reference

12 December 2020

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

1 reference

12 December 2020