Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. (Q39026251)

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9 April 2020

title

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy (English)

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Alejandro Estrada Cuzcano

9 April 2020

author

7

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9 April 2020

Derek Atkinson

1

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9 April 2020

Bob Asselbergh

3

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9 April 2020

author name string

Jelena Nikodinovic Glumac

2

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9 April 2020

Biljana Ermanoska

4

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9 April 2020

David Blocquel

5

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9 April 2020

Regula Steiner

6

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9 April 2020

Kristien Peeters

8

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9 April 2020

Tinne Ooms

9

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9 April 2020

Els De Vriendt

10

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9 April 2020

Xiang-Lei Yang

11

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9 April 2020

Thorsten Hornemann

12

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9 April 2020

Vedrana Milic Rasic

13

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Albena Jordanova

14

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language of work or name

English

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publication date

11 January 2017

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9 April 2020

number of pages

10

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inferred from page(s)

published in

Neurology

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9 April 2020

volume

88

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9 April 2020

page(s)

533-542

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9 April 2020

issue

6

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Exome Sequencing and the Management of Neurometabolic Disorders.

9 April 2020

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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

17 June 2018

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Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases

17 June 2018

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Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

17 June 2018

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Sphingosine-1-phosphate: boon and bane for the brain.

17 June 2018

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Orally active 7-substituted (4-benzylphthalazin-1-yl)-2-methylpiperazin-1-yl]nicotinonitriles as active-site inhibitors of sphingosine 1-phosphate lyase for the treatment of multiple sclerosis

17 June 2018

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CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

17 June 2018

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Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila

17 June 2018

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Human intellectual disability genes form conserved functional modules in Drosophila.

17 June 2018

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease

17 June 2018

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17 June 2018

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Sphingosine 1-phosphate (S1P) lyase deficiency increases sphingolipid formation via recycling at the expense of de novo biosynthesis in neurons

17 June 2018

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17 June 2018

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Sphingosine-1-phosphate links glycosphingolipid metabolism to neurodegeneration via a calpain-mediated mechanism

17 June 2018

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

17 June 2018

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Sphingosine 1-phosphate lyase deficiency disrupts lipid homeostasis in liver

17 June 2018

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Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy

17 June 2018

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17 June 2018

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Sphingosine-1-phosphate lyase in immunity and cancer: silencing the siren

17 June 2018

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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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12 December 2020

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12 December 2020

Charcot-Marie-Tooth disease

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12 December 2020

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Identifiers

DOI

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9 April 2020

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