(Q28246648)

14

0 references

Hulya Kayserili

15

Hülya Kayserili

0 references

Rocio Acuna-Hidalgo

Rocio Acuna-Hidalgo

1

0 references

Christoph Freyer

Christoph Freyer

11

0 references

Peter Conner

Peter Conner

6

0 references

Anna Wredenberg

Anna Wredenberg

12

0 references

Giedre Grigelioniene

Giedre Grigelioniene

7

0 references

Ann Nordgren

Ann Nordgren

4

0 references

Andreas Janecke

Andreas R Janecke

28

0 references

Christian Gilissen

Christian Gilissen

27

0 references

Magnus Nordenskjöld

Magnus Nordenskjöld

9

0 references

Kym M Boycott

26

Kym M Boycott

0 references

Daniel Nilsson

Daniel Nilsson

8

0 references

Denny Schanze

2

Denny Schanze

0 references

Alexander Hoischen

29

Alexander Hoischen

0 references

Martin Zenker

30

Martin Zenker

0 references

Rolph Pfundt

22

Rolph Pfundt

0 references

author name string

Ariana Kariminejad

3

0 references

Mohamad Hasan Kariminejad

5

0 references

Anna Wedell

10

0 references

Dagmar Wieczorek

13

0 references

Nursel Elcioglu

16

0 references

Siavash Ghaderi-Sohi

17

0 references

Payman Goodarzi

18

0 references

Hamidreza Setayesh

19

0 references

Maartje van de Vorst

20

0 references

Marloes Steehouwer

21

0 references

Birgit Krabichler

23

0 references

Cynthia Curry

24

0 references

Malcolm G MacKenzie

American Journal of Human Genetics

25

0 references

language of work or name

English

0 references

publication date

4 September 2014

0 references

published in

0 references

volume

95

0 references

issue

3

0 references

page(s)

285-93

0 references

cites work

Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells

1 reference

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Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

20 March 2017

1 reference

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Mutations responsible for 3-phosphoserine phosphatase deficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Crystal structure of phosphoserine aminotransferase from Escherichia coli at 2.3 A resolution: comparison of the unligated enzyme and a complex with alpha-methyl-l-glutamate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

p73 regulates serine biosynthesis in cancer.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Contribution of serine, folate and glycine metabolism to the ATP, NADPH and purine requirements of cancer cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Mutations in ANTXR1 cause GAPO syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Contribution of rare copy number variants to isolated human malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Functional genomics reveal that the serine synthesis pathway is essential in breast cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

A graphical interface for the FoldX forcefield

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Treatment with amino acids in serine deficiency disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

An update on serine deficiency disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

A further example of a lethal autosomal recessive condition in sibs

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Serine, but not glycine, supports one-carbon metabolism and proliferation of cancer cells.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157144

10.1016/J.AJHG.2014.07.012

27 November 2018

Identifiers

DOI

1 reference

4417746

4417746

1 reference

1 reference

1 reference