FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation (Q24292446)

very long-chain fatty acid-CoA ligase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Hans-Hilger Ropers

11

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Jean-Pierre Fryns

10

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Martine Raynaud

3

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Jamel Chelly

8

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Marie Gomot

Marie Gomot

7

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Nila Volpi

Nila Volpi

14

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Ilaria Meloni

Ilaria Meloni

1

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Alessandra Renieri

Alessandra Renieri

18

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Vincent des Portes

9

Vincent des Portes

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Helger G Yntema

15

Helger G Yntema

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author name string

Maddalena Muscettola

2

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Ilaria Longo

4

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Mirella Bruttini

5

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Marie-Pierre Moizard

6

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Barbara Magi

12

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Cristina Bellan

13

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Sarah E Lewis

16

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Jean E Schaffer

17

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language of work or name

English

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publication date

April 2002

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published in

Nature Genetics

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volume

30

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page(s)

436-40

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issue

4

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cites work

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FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

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Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4)

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Expression of fatty acid-CoA ligase 4 during development and in brain.

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Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling

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A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

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A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

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MECP2 is highly mutated in X-linked mental retardation.

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Substitution of alanine for serine 250 in the murine fatty acid transport protein inhibits long chain fatty acid transport

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40 Long-chain acyl-CoA synthetase from rat liver

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Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations

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Identification and molecular characterization of acyl-CoA synthetase in human erythrocytes and erythroid precursors

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Mutational analysis of a fatty acyl-coenzyme A synthetase signature motif identifies seven amino acid residues that modulate fatty acid substrate specificity.

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