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Citations to this article

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features
Valter Tucci, … , Sara Wells, Patrick M. Nolan
Valter Tucci, … , Sara Wells, Patrick M. Nolan
Published March 10, 2014
Citation Information: J Clin Invest. 2014;124(4):1468-1482. https://doi.org/10.1172/JCI70372.
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Research Article Neuroscience Article has an altmetric score of 26

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

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Abstract

The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with β-catenin mutations enabled us to investigate the consequences of β-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (Bfc), carries a Thr653Lys substitution in the C-terminal armadillo repeat of β-catenin and displayed a reduced affinity for membrane-associated cadherins. In association with this decreased cadherin interaction, we found that the mutation results in decreased intrahemispheric connections, with deficits in dendritic branching, long-term potentiation, and cognitive function. Our study provides in vivo evidence that dominant mutations in β-catenin underlie losses in its adhesion-related functions, which leads to severe consequences, including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and abnormal craniofacial features in adults.

Authors

Valter Tucci, Tjitske Kleefstra, Andrea Hardy, Ines Heise, Silvia Maggi, Marjolein H. Willemsen, Helen Hilton, Chris Esapa, Michelle Simon, Maria-Teresa Buenavista, Liam J. McGuffin, Lucie Vizor, Luca Dodero, Sotirios Tsaftaris, Rosario Romero, Willy N. Nillesen, Lisenka E.L.M. Vissers, Marlies J. Kempers, Anneke T. Vulto-van Silfhout, Zafar Iqbal, Marta Orlando, Alessandro Maccione, Glenda Lassi, Pasqualina Farisello, Andrea Contestabile, Federico Tinarelli, Thierry Nieus, Andrea Raimondi, Barbara Greco, Daniela Cantatore, Laura Gasparini, Luca Berdondini, Angelo Bifone, Alessandro Gozzi, Sara Wells, Patrick M. Nolan

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 Total
Citations: 5 3 7 12 7 10 7 3 13 8 8 3 86
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2017 (13)

Title and authors Publication Year
Spatial Impairment and Memory in Genetic Disorders: Insights from Mouse Models
S Lee, V Tucci, G Vallortigara
Brain Sciences 2017
Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases
A Trulioff, A Ermakov, Y Malashichev
Genes & development 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HA Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, M Kvarnung, J Gerdts, S Trinh, N Cosemans, L Vives, J Lin, TN Turner, G Santen, C Ruivenkamp, M Kriek, A Haeringen, E Aten, K Friend, J Liebelt, C Barnett, E Haan, M Shaw, J Gecz, BM Anderlid, A Nordgren, A Lindstrand, C Schwartz, RF Kooy, G Vandeweyer, C Helsmoortel, C Romano, A Alberti, M Vinci, E Avola, S Giusto, E Courchesne, T Pramparo, K Pierce, S Nalabolu, DG Amaral, IE Scheffer, MB Delatycki, PJ Lockhart, F Hormozdiari, B Harich, A Castells-Nobau, K Xia, H Peeters, M Nordenskjöld, A Schenck, RA Bernier, EE Eichler
Nature Genetics 2017
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
M Kharbanda, DT Pilz, S Tomkins, K Chandler, A Saggar, A Fryer, V McKay, P Louro, JC Smith, J Burn, U Kini, AD Burca, DR FitzPatrick, E Kinning
European Journal of Medical Genetics 2017
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies
G Banks, G Lassi, A Hoerder-Suabedissen, F Tinarelli, MM Simon, A Wilcox, P Lau, TN Lawson, S Johnson, A Rutman, M Sweeting, JE Chesham, AR Barnard, N Horner, H Westerberg, LB Smith, Z Molnár, MH Hastings, RA Hirst, V Tucci, PM Nolan
Molecular Psychiatry 2017
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review
N Li, Y Xu, G Li, T Yu, R Yao, X Wang, J Wang
Medicine 2017
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
ES Panagiotou, CS Soriano, JA Poulter, EC Lord, D Dzulova, H Kondo, A Hiyoshi, BH Chung, YW Chu, CH Lai, ME Tafoya, D Karjosukarso, RW Collin, J Topping, LM Downey, M Ali, CF Inglehearn, C Toomes
The American Journal of Human Genetics 2017
Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders
A Alfieri, O Sorokina, A Adrait, C Angelini, I Russo, A Morellato, M Matteoli, E Menna, EB Erba, C McLean, JD Armstrong, U Ala, JD Buxbaum, A Brusco, Y Couté, SD Rubeis, E Turco, P Defilippi
Frontiers in molecular neuroscience 2017
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome
JJ Yi, SR Paranjape, MP Walker, R Choudhury, JM Wolter, G Fragola, MJ Emanuele, MB Major, MJ Zylka
The Journal of biological chemistry 2017
WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4
KM Hennig, DM Fass, WN Zhao, SD Sheridan, T Fu, S Erdin, A Stortchevoi, D Lucente, JD Cody, D Sweetser, JF Gusella, ME Talkowski, SJ Haggarty
Molecular Neuropsychiatry 2017
Early postnatal vocalizations predict sociability and spatial memory in C57BL/6J mice: Individual differences in behavioral traits emerge early in development
K Yoshizaki, K Koike, R Kimura, N Osumi, K Ikeda
PloS one 2017
Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development
A Levchenko, A Kanapin, A Samsonova, RR Gainetdinov
Genome Biology and Evolution 2017
PKD1 promotes functional synapse formation coordinated with N-cadherin in hippocampus
C Cen, LD Luo, WQ Li, G Li, NX Tian, G Zheng, DM Yin, Y Zou, Y Wang
The Journal of neuroscience : the official journal of the Society for Neuroscience 2017

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