Mutations responsible for 3-phosphoserine phosphatase deficiency (Q24301799)

GOA release 2020-03-11

phosphatase activity

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GOA release 2020-03-11

1 reference

Emile Van Schaftingen

7

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Maria Veiga-da-Cunha

1

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Jean-François Collet

2

object named as

Jean-François Collet

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Benoît Prieur

3

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author name string

Jaak Jaeken

4

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Yves Peeraer

5

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Anja Rabbijns

European Journal of Human Genetics

6

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language of work or name

English

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publication date

February 2004

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published in

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volume

12

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issue

2

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page(s)

163-6

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cites work

Neurobiology through the looking-glass: D-serine as a new glial-derived transmitter

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3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis

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3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

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V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme

21 January 2018

1 reference

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Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

21 January 2018

1 reference

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Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

21 January 2018

1 reference

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Phosphoserine phosphatase deficiency in a patient with Williams syndrome

21 January 2018

1 reference

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

21 January 2018

1 reference

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Assignment of the human phosphoserine phosphatase gene (<i>PSP</i>) to the pter→q22 region of chromosome 7

21 January 2018

1 reference

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Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate

21 January 2018

1 reference

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

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Use of bacteriophage T7 RNA polymerase to direct selective high-level expression of cloned genes

21 January 2018

1 reference

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Crystal structure of phosphoserine phosphatase from Methanococcus jannaschii, a hyperthermophile, at 1.8 A resolution

21 January 2018

1 reference

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Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase

21 January 2018

1 reference

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A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif

21 January 2018

1 reference

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Mechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPases

21 January 2018

1 reference

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High-resolution structure of human phosphoserine phosphatase in open conformation

21 January 2018

1 reference

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