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 (
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
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 |