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PubMed: 28167836

Title
Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.
Journal
Molecular psychiatry
Volume
23
Issue
None
Pages
747-758
Date
2018-03-01
Authors
Ye K | Dang T | Wu BL | An Y | Cheng C | Duan WY | Qiu ZL | Tong DL | Wu BB | Wu M | Wu W | Yu B | Zhang WX | Zhang YF

Evidence f940d24455
JSON

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants.

act(p(HGNC:DYRK1A)) regulates a(HBP:Neurites) View Subject | View Object

Appears in Networks:

act(p(HGNC:DYRK1A)) regulates a(GO:axon) View Subject | View Object

Appears in Networks:

p(HBP:"NP_001387.2:p.Arg205del") decreases act(p(HGNC:DYRK1A)) View Subject | View Object

Appears in Networks:

p(HBP:"NP_001387.2:p.Arg205del") positiveCorrelation path(MESH:"Autism Spectrum Disorder") View Subject | View Object

Appears in Networks:

p(HBP:"NP_001387.2:p.Glu239del") decreases act(p(HGNC:DYRK1A)) View Subject | View Object

Appears in Networks:

p(HBP:"NP_001387.2:p.Glu239del") positiveCorrelation path(MESH:"Autism Spectrum Disorder") View Subject | View Object

Appears in Networks:

path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Glu239del") View Subject | View Object

Appears in Networks:

path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Arg205del") View Subject | View Object

Appears in Networks:

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