The tubulin code, from molecules to health and disease

ED McKenna, SL Sarbanes… - Annual Review of …, 2023 - annualreviews.org
Microtubules are essential dynamic polymers composed of α/β-tubulin heterodimers. They
support intracellular trafficking, cell division, cellular motility, and other essential cellular …

The DYRK family of kinases in cancer: molecular functions and therapeutic opportunities

J Boni, C Rubio-Perez, N López-Bigas, C Fillat… - Cancers, 2020 - mdpi.com
DYRK (dual-specificity tyrosine-regulated kinases) are an evolutionary conserved family of
protein kinases with members from yeast to humans. In humans, DYRKs are pleiotropic …

A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes

GY Cederquist, J Tchieu, SJ Callahan, K Ramnarine… - Cell stem cell, 2020 - cell.com
Autism is a clinically heterogeneous neurodevelopmental disorder characterized by
impaired social interactions, restricted interests, and repetitive behaviors. Despite significant …

The omnipresence of DYRK1A in human diseases

E Deboever, A Fistrovich, C Hulme… - International journal of …, 2022 - mdpi.com
The increasing population will challenge healthcare, particularly because the worldwide
population has never been older. Therapeutic solutions to age-related disease will be …

Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome

H Atas-Ozcan, V Brault, A Duchon, Y Herault - Genes, 2021 - mdpi.com
Down syndrome is the main cause of intellectual disabilities with a large set of comorbidities
from developmental origins but also that appeared across life span. Investigation of the …

What we can learn from a genetic rodent model about autism

D Möhrle, M Fernández, O Peñagarikano… - Neuroscience & …, 2020 - Elsevier
Autism spectrum disorders (ASD) are complex neurodevelopmental disorders that are
caused by genetic and/or environmental impacts, often probably by the interaction of both …

Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments

LD Morison, RO Braden, DJ Amor, A Brignell… - European Journal of …, 2022 - nature.com
Speech and language impairments are commonly reported in DYRK1A syndrome. Yet,
speech and language abilities have not been systematically examined in a prospective …

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

J Courraud, E Chater-Diehl, B Durand, M Vincent… - Genetics in …, 2021 - nature.com
Purpose DYRK1A syndrome is among the most frequent monogenic forms of intellectual
disability (ID). We refined the molecular and clinical description of this disorder and …

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

V Brault, TL Nguyen, J Flores-Gutiérrez, G Iacono… - PLoS …, 2021 - journals.plos.org
Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases
including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function …

A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder

SS Purushotham, NMN Reddy, MN D'Souza… - Experimental Brain …, 2022 - Springer
Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental
disorders that have become a primary clinical and social concern, with a prevalence of 2 …