(Q37405081)

English

Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24220030%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24220030%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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Trans-2,3-enoyl-CoA reductase

1 reference

GOA release 2020-03-11

very-long-chain enoyl-CoA reductase activity

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

2

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29 February 2020

3

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29 February 2020

6

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29 February 2020

7

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29 February 2020

author name string

Kensuke Abe

1

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29 February 2020

Ryo Taguchi

4

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29 February 2020

Minal Çalışkan

5

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Europe PubMed Central

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29 February 2020

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publication date

12 November 2013

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29 February 2020

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9

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Journal of Biological Chemistry

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29 February 2020

288

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29 February 2020

51

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29 February 2020

36741-36749

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24220030%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Congenital myopathy is caused by mutation of HACD1.

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

1 reference

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6 September 2017

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1 reference

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6 September 2017

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6 September 2017

The key roles of elongases and desaturases in mammalian fatty acid metabolism: Insights from transgenic mice.

1 reference

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6 September 2017

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

1 reference

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6 September 2017

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1 reference

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6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868783

6 September 2017

Metabolism and biological functions of two phosphorylated sphingolipids, sphingosine 1-phosphate and ceramide 1-phosphate

1 reference

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6 September 2017

Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade

1 reference

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6 September 2017

Identification and characterization of a novel human sphingosine-1-phosphate phosphohydrolase, hSPP2

1 reference

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6 September 2017

Identification and characterization of a Saccharomyces cerevisiae gene, RSB1, involved in sphingoid long-chain base release

1 reference

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1 reference

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6 September 2017

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

1 reference

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6 September 2017

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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26 June 2018

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1 reference

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1 reference

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1 reference

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10.1074/JBC.M113.493221

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29 February 2020

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24 November 2022

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29 February 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24220030%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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