Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy (Q34418788)

2 August 2017

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy (English)

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2 August 2017

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14

Niels Tommerup

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Helle Hjalgrim

13

Helle Hjalgrim

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ANDRES KLEIN

Andres D Klein

11

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Anne Sabers

Anne Sabers

7

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Jørgen E Nielsen

Jørgen E Nielsen

9

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Nils Joakim Færgeman

Nils J Færgeman

17

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Rikke S Møller

Rikke S Møller

16

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Anthony H. Futerman

Anthony H Futerman

15

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Lis Frydenreich Hasholt

10

Lis Hasholt

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2 August 2017

Mai-Britt Mosbech

1

1 reference

2 August 2017

Anne S B Olsen

2

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2 August 2017

Ditte Neess

3

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2 August 2017

Oshrit Ben-David

4

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2 August 2017

Laura L Klitten

5

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2 August 2017

Jan Larsen

6

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2 August 2017

John Vissing

8

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2 August 2017

Michael M Tsoory

12

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2 August 2017

13 January 2014

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Annals of clinical and translational neurology

2 August 2017

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2 August 2017

1

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2 August 2017

2

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2 August 2017

88-98

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describes a project that uses

2 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4212479/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Ceramide synthases expression and role of ceramide synthase-2 in the lung: insight from human lung cells and mouse models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Self-segregation of myelin membrane lipids in model membranes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Ceramide synthases at the centre of sphingolipid metabolism and biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Ablation of ceramide synthase 2 strongly affects biophysical properties of membranes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Disruption of the acyl-CoA-binding protein gene delays hepatic adaptation to metabolic changes at weaning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Setdb1 histone methyltransferase regulates mood-related behaviors and expression of the NMDA receptor subunit NR2B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Mammalian ceramide synthases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Ceramide-enriched membrane domains--structure and function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Differential expression of (dihydro)ceramide synthases in mouse brain: oligodendrocyte-specific expression of CerS2/Lass2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

The metabolism and function of sphingolipids and glycosphingolipids.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Lipid raft microdomains and neurotransmitter signalling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Lipid rafts serve as a signaling platform for nicotinic acetylcholine receptor clustering.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Progressive myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

The Mouse Defense Test Battery: pharmacological and behavioral assays for anxiety and panic

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Biology of oligodendrocyte and myelin in the mammalian central nervous system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Lipids of nervous tissue: composition and metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

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

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FACN3.28

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FACN3.28

Ablation of very long acyl chain sphingolipids causes hepatic insulin resistance in mice due to altered detergent-resistant membranes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FACN3.28

KMT1E mediated H3K9 methylation is required for the maintenance of embryonic stem cells by repressing trophectoderm differentiation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212479

Progressive myoclonic epilepsy

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25356388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.28

1 reference

2 August 2017

1 reference

2 August 2017

1 reference