Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. (Q40871094)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26041762%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26041762%20AND%20SRC:MED&resulttype=core&format=json

Solute carrier family 1 member 4

16 February 2020

main subject

microcephaly

0 references

1 reference

L-alanine import across plasma membrane

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Kwame Anyane-Yeboa

17

1 reference

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16 February 2020

Simon Edvardson

22

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16 February 2020

10

Jane Juusola

1 reference

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16 February 2020

author name string

Nadirah Damseh

1

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16 February 2020

Alexandre Simonin

2

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16 February 2020

Chaim Jalas

3

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16 February 2020

Joseph A Picoraro

4

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16 February 2020

Avraham Shaag

5

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16 February 2020

Megan T Cho

6

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16 February 2020

Barak Yaacov

7

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16 February 2020

Julie Neidich

8

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16 February 2020

Motee Al-Ashhab

9

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16 February 2020

Sherri Bale

11

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16 February 2020

Aida Telegrafi

12

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16 February 2020

Kyle Retterer

13

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16 February 2020

John G Pappas

14

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16 February 2020

Ellen Moran

15

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16 February 2020

Joshua Cappell

16

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16 February 2020

Bassam Abu-Libdeh

18

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16 February 2020

Matthias A Hediger

19

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16 February 2020

Wendy K Chung

20

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16 February 2020

Orly Elpeleg

21

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16 February 2020

language of work or name

English

0 references

publication date

3 June 2015

1 reference

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Journal of Medical Genetics

16 February 2020

published in

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16 February 2020

volume

52

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16 February 2020

page(s)

541-547

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16 February 2020

issue

8

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Enzymes of serine metabolism in normal, developing and neoplastic rat tissues

16 February 2020

cites work

1 reference

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D-amino acids as putative neurotransmitters: focus on D-serine

21 January 2018

1 reference

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Functional identification of ASCT1 neutral amino acid transporter as the predominant system for the uptake of L-serine in rat neurons in primary culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

An update on serine deficiency disorders

21 January 2018

1 reference

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Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

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Nedd4-1 and beta-arrestin-1 are key regulators of Na+/H+ exchanger 1 ubiquitylation, endocytosis, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

The SLC1 high-affinity glutamate and neutral amino acid transporter family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

L-serine synthesis in the central nervous system: a review on serine deficiency disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103104

10.1136/JMEDGENET-2015-103104

21 January 2018

Identifiers

DOI

1 reference

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16 February 2020

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