Research ExplorerPublicationsDe Novo Mutations in DENR Disrupt Neuronal Development and L...

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

Standard

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation. / Haas, Matilda A; Ngo, Linh; Li, Shan Shan; Schleich, Sibylle; Qu, Zhengdong; Vanyai, Hannah K; Cullen, Hayley D; Cardona Alberich, Aida; Gladwyn-Ng, Ivan E; Pagnamenta, Alistair T; Taylor, Jenny C; Stewart, Helen; Kini, Usha; Duncan, Kent; Teleman, Aurelio A; Keays, David A; Heng, Julian I-T.

In: CELL REP, Vol. 15, No. 10, 07.06.2016, p. 2251-2265.

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

Harvard

Haas, MA, Ngo, L, Li, SS, Schleich, S, Qu, Z, Vanyai, HK, Cullen, HD, Cardona Alberich, A, Gladwyn-Ng, IE, Pagnamenta, AT, Taylor, JC, Stewart, H, Kini, U, Duncan, K, Teleman, AA, Keays, DA & Heng, JI-T 2016, 'De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation', CELL REP, vol. 15, no. 10, pp. 2251-2265. https://doi.org/10.1016/j.celrep.2016.04.090

APA

Haas, M. A., Ngo, L., Li, S. S., Schleich, S., Qu, Z., Vanyai, H. K., Cullen, H. D., Cardona Alberich, A., Gladwyn-Ng, I. E., Pagnamenta, A. T., Taylor, J. C., Stewart, H., Kini, U., Duncan, K., Teleman, A. A., Keays, D. A., & Heng, J. I-T. (2016). De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation. CELL REP, 15(10), 2251-2265. https://doi.org/10.1016/j.celrep.2016.04.090

Vancouver

Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK et al. De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation. CELL REP. 2016 Jun 7;15(10):2251-2265. https://doi.org/10.1016/j.celrep.2016.04.090

Bibtex

@article{1308451dd387431eabbdeeb2abe2aa3a,
title = "De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation",
abstract = "Disruptions to neuronal mRNA translation are hypothesized to underlie human neurodevelopmental syndromes. Notably, the mRNA translation re-initiation factor DENR is a regulator of eukaryotic translation and cell growth, but its mammalian functions are unknown. Here, we report that Denr influences the migration of murine cerebral cortical neurons in vivo with its binding partner Mcts1, whereas perturbations to Denr impair the long-term positioning, dendritic arborization, and dendritic spine characteristics of postnatal projection neurons. We characterized de novo missense mutations in DENR (p.C37Y and p.P121L) detected in two unrelated human subjects diagnosed with brain developmental disorder to find that each variant impairs the function of DENR in mRNA translation re-initiation and disrupts the migration and terminal branching of cortical neurons in different ways. Thus, our findings link human brain disorders to impaired mRNA translation re-initiation through perturbations in DENR (OMIM: 604550) function in neurons.",
author = "Haas, {Matilda A} and Linh Ngo and Li, {Shan Shan} and Sibylle Schleich and Zhengdong Qu and Vanyai, {Hannah K} and Cullen, {Hayley D} and {Cardona Alberich}, Aida and Gladwyn-Ng, {Ivan E} and Pagnamenta, {Alistair T} and Taylor, {Jenny C} and Helen Stewart and Usha Kini and Kent Duncan and Teleman, {Aurelio A} and Keays, {David A} and Heng, {Julian I-T}",
year = "2016",
month = jun,
day = "7",
doi = "10.1016/j.celrep.2016.04.090",
language = "English",
volume = "15",
pages = "2251--2265",
journal = "CELL REP",
issn = "2211-1247",
publisher = "Elsevier",
number = "10",

}

RIS

TY - JOUR

T1 - De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

AU - Haas, Matilda A

AU - Ngo, Linh

AU - Li, Shan Shan

AU - Schleich, Sibylle

AU - Qu, Zhengdong

AU - Vanyai, Hannah K

AU - Cullen, Hayley D

AU - Cardona Alberich, Aida

AU - Gladwyn-Ng, Ivan E

AU - Pagnamenta, Alistair T

AU - Taylor, Jenny C

AU - Stewart, Helen

AU - Kini, Usha

AU - Duncan, Kent

AU - Teleman, Aurelio A

AU - Keays, David A

AU - Heng, Julian I-T

PY - 2016/6/7

Y1 - 2016/6/7

N2 - Disruptions to neuronal mRNA translation are hypothesized to underlie human neurodevelopmental syndromes. Notably, the mRNA translation re-initiation factor DENR is a regulator of eukaryotic translation and cell growth, but its mammalian functions are unknown. Here, we report that Denr influences the migration of murine cerebral cortical neurons in vivo with its binding partner Mcts1, whereas perturbations to Denr impair the long-term positioning, dendritic arborization, and dendritic spine characteristics of postnatal projection neurons. We characterized de novo missense mutations in DENR (p.C37Y and p.P121L) detected in two unrelated human subjects diagnosed with brain developmental disorder to find that each variant impairs the function of DENR in mRNA translation re-initiation and disrupts the migration and terminal branching of cortical neurons in different ways. Thus, our findings link human brain disorders to impaired mRNA translation re-initiation through perturbations in DENR (OMIM: 604550) function in neurons.

AB - Disruptions to neuronal mRNA translation are hypothesized to underlie human neurodevelopmental syndromes. Notably, the mRNA translation re-initiation factor DENR is a regulator of eukaryotic translation and cell growth, but its mammalian functions are unknown. Here, we report that Denr influences the migration of murine cerebral cortical neurons in vivo with its binding partner Mcts1, whereas perturbations to Denr impair the long-term positioning, dendritic arborization, and dendritic spine characteristics of postnatal projection neurons. We characterized de novo missense mutations in DENR (p.C37Y and p.P121L) detected in two unrelated human subjects diagnosed with brain developmental disorder to find that each variant impairs the function of DENR in mRNA translation re-initiation and disrupts the migration and terminal branching of cortical neurons in different ways. Thus, our findings link human brain disorders to impaired mRNA translation re-initiation through perturbations in DENR (OMIM: 604550) function in neurons.

U2 - 10.1016/j.celrep.2016.04.090

DO - 10.1016/j.celrep.2016.04.090

M3 - SCORING: Journal article

C2 - 27239039

VL - 15

SP - 2251

EP - 2265

JO - CELL REP

JF - CELL REP

SN - 2211-1247

IS - 10

ER -