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DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

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DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. / Kwan, Vickie; Meka, Praveen; White, Sean H; Hung, Claudia L; Holzapfel, Nicholas T; Walker, Susan; Murtaza, Nadeem; Unda, Brianna K; Schwanke, Birgit; Yuen, Ryan K C; Habing, Kendra; Milsom, Chloe; Hope, Kristin J; Truant, Ray; Scherer, Stephen W; Calderon de Anda, Froylan; Singh, Karun K. .

In: CELL REP, Vol. 17, No. 7, 08.11.2016, p. 1892-1904.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kwan, V, Meka, P, White, SH, Hung, CL, Holzapfel, NT, Walker, S, Murtaza, N, Unda, BK, Schwanke, B, Yuen, RKC, Habing, K, Milsom, C, Hope, KJ, Truant, R, Scherer, SW, Calderon de Anda, F & Singh, KK 2016, 'DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants', CELL REP, vol. 17, no. 7, pp. 1892-1904. https://doi.org/DOI: 10.1016/j.celrep.2016.10.047

APA

Kwan, V., Meka, P., White, S. H., Hung, C. L., Holzapfel, N. T., Walker, S., Murtaza, N., Unda, B. K., Schwanke, B., Yuen, R. K. C., Habing, K., Milsom, C., Hope, K. J., Truant, R., Scherer, S. W., Calderon de Anda, F., & Singh, K. K. (2016). DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. CELL REP, 17(7), 1892-1904. https://doi.org/DOI: 10.1016/j.celrep.2016.10.047

Vancouver

Kwan V, Meka P, White SH, Hung CL, Holzapfel NT, Walker S et al. DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. CELL REP. 2016 Nov 8;17(7):1892-1904. https://doi.org/DOI: 10.1016/j.celrep.2016.10.047

Bibtex

@article{18c09beff41845f4aa35516089174155,
title = "DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants",
abstract = "The development of neural connectivity is essential for brain function, and disruption of this process is associated with autism spectrum disorders (ASDs). DIX domain containing 1 (DIXDC1) has previously been implicated in neurodevelopmental disorders, but its role in postnatal brain function remains unknown. Using a knockout mouse model, we determined that DIXDC1 is a regulator of excitatory neuron dendrite development and synapse function in the cortex. We discovered that MARK1, previously linked to ASDs, phosphorylates DIXDC1 to regulate dendrite and spine development through modulation of the cytoskeletal network in an isoform-specific manner. Finally, rare missense variants in DIXDC1 were identified in ASD patient cohorts via genetic sequencing. Interestingly, the variants inhibit DIXDC1 isoform 1 phosphorylation, causing impairment to dendrite and spine growth. These data reveal that DIXDC1 is a regulator of cortical dendrite and synaptic development and provide mechanistic insight into morphological defects associated with neurodevelopmental disorders.",
author = "Vickie Kwan and Praveen Meka and White, {Sean H} and Hung, {Claudia L} and Holzapfel, {Nicholas T} and Susan Walker and Nadeem Murtaza and Unda, {Brianna K} and Birgit Schwanke and Yuen, {Ryan K C} and Kendra Habing and Chloe Milsom and Hope, {Kristin J} and Ray Truant and Scherer, {Stephen W} and {Calderon de Anda}, Froylan and Singh, {Karun K.}",
year = "2016",
month = nov,
day = "8",
doi = "DOI: 10.1016/j.celrep.2016.10.047",
language = "English",
volume = "17",
pages = "1892--1904",
journal = "CELL REP",
issn = "2211-1247",
publisher = "Elsevier",
number = "7",

}

RIS

TY - JOUR

T1 - DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

AU - Kwan, Vickie

AU - Meka, Praveen

AU - White, Sean H

AU - Hung, Claudia L

AU - Holzapfel, Nicholas T

AU - Walker, Susan

AU - Murtaza, Nadeem

AU - Unda, Brianna K

AU - Schwanke, Birgit

AU - Yuen, Ryan K C

AU - Habing, Kendra

AU - Milsom, Chloe

AU - Hope, Kristin J

AU - Truant, Ray

AU - Scherer, Stephen W

AU - Calderon de Anda, Froylan

AU - Singh, Karun K.

PY - 2016/11/8

Y1 - 2016/11/8

N2 - The development of neural connectivity is essential for brain function, and disruption of this process is associated with autism spectrum disorders (ASDs). DIX domain containing 1 (DIXDC1) has previously been implicated in neurodevelopmental disorders, but its role in postnatal brain function remains unknown. Using a knockout mouse model, we determined that DIXDC1 is a regulator of excitatory neuron dendrite development and synapse function in the cortex. We discovered that MARK1, previously linked to ASDs, phosphorylates DIXDC1 to regulate dendrite and spine development through modulation of the cytoskeletal network in an isoform-specific manner. Finally, rare missense variants in DIXDC1 were identified in ASD patient cohorts via genetic sequencing. Interestingly, the variants inhibit DIXDC1 isoform 1 phosphorylation, causing impairment to dendrite and spine growth. These data reveal that DIXDC1 is a regulator of cortical dendrite and synaptic development and provide mechanistic insight into morphological defects associated with neurodevelopmental disorders.

AB - The development of neural connectivity is essential for brain function, and disruption of this process is associated with autism spectrum disorders (ASDs). DIX domain containing 1 (DIXDC1) has previously been implicated in neurodevelopmental disorders, but its role in postnatal brain function remains unknown. Using a knockout mouse model, we determined that DIXDC1 is a regulator of excitatory neuron dendrite development and synapse function in the cortex. We discovered that MARK1, previously linked to ASDs, phosphorylates DIXDC1 to regulate dendrite and spine development through modulation of the cytoskeletal network in an isoform-specific manner. Finally, rare missense variants in DIXDC1 were identified in ASD patient cohorts via genetic sequencing. Interestingly, the variants inhibit DIXDC1 isoform 1 phosphorylation, causing impairment to dendrite and spine growth. These data reveal that DIXDC1 is a regulator of cortical dendrite and synaptic development and provide mechanistic insight into morphological defects associated with neurodevelopmental disorders.

U2 - DOI: 10.1016/j.celrep.2016.10.047

DO - DOI: 10.1016/j.celrep.2016.10.047

M3 - SCORING: Journal article

VL - 17

SP - 1892

EP - 1904

JO - CELL REP

JF - CELL REP

SN - 2211-1247

IS - 7

ER -