Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
about
In vivo transgenic expression of collybistin in neurons of the rat cerebral cortex.Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-OrchidismReceptor tyrosine kinase EphA7 is required for interneuron connectivity at specific subcellular compartments of granule cells.ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.eIF3: a factor for human health and disease.Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
P2860
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P2860
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Collybistin binds and inhibits ...... lectual disability and autism.
@ast
Collybistin binds and inhibits ...... lectual disability and autism.
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type
label
Collybistin binds and inhibits ...... lectual disability and autism.
@ast
Collybistin binds and inhibits ...... lectual disability and autism.
@en
prefLabel
Collybistin binds and inhibits ...... lectual disability and autism.
@ast
Collybistin binds and inhibits ...... lectual disability and autism.
@en
P2093
P2860
P356
P1476
Collybistin binds and inhibits ...... lectual disability and autism.
@en
P2093
Andrea Laurato Sertie
Camila Oliveira Freitas Machado
Carla Rosenberg
Fernando Kok
Karina Griesi-Oliveira
Stephanie Martins
P2860
P2888
P356
10.1038/EJHG.2015.69
P577
2015-04-22T00:00:00Z