Microtubules: From understanding their dynamics to using them as potential therapeutic targets

Y Ilan - Journal of cellular physiology, 2019‏ - Wiley Online Library
Microtubules (MT) and actin microfilaments are dynamic cytoskeleton components involved
in a range of intracellular processes. MTs play a role in cell division, beating of cilia and …

High rate of recurrent de novo mutations in developmental and epileptic encephalopathies

FF Hamdan, CT Myers, P Cossette, P Lemay… - The American Journal of …, 2017‏ - cell.com
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

S Küry, GM van Woerden, T Besnard, MP Onori… - The American Journal of …, 2017‏ - cell.com
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …

Disruption of POGZ is associated with intellectual disability and autism spectrum disorders

HAF Stessman, MH Willemsen, M Fenckova… - The American Journal of …, 2016‏ - cell.com
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically
heterogeneous, and a significant number of genes have been associated with both …

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

S Küry, T Besnard, F Ebstein, TN Khan… - The American Journal of …, 2017‏ - cell.com
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …

[HTML][HTML] Neuronal cytoskeleton in intellectual disability: from systems biology and modeling to therapeutic opportunities

C Liaci, M Camera, G Caslini, S Rando… - International Journal of …, 2021‏ - mdpi.com
Intellectual disability (ID) is a pathological condition characterized by limited intellectual
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …

De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder

D Lessel, C Schob, S Küry, MRF Reijnders… - The American Journal of …, 2017‏ - cell.com
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to
unwind RNA secondary structures. Here we identified six different de novo missense …

Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism

FL Harms, KM Girisha, AA Hardigan, F Kortüm… - The American Journal of …, 2017‏ - cell.com
From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying …

CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair

F Li, P Sarangi, DR Iyer, H Feng, L Moreau, H Nguyen… - Cell reports, 2022‏ - cell.com
A critical determinant of DNA repair pathway choice is REV7, an adaptor that binds to
various DNA repair proteins through its C-terminal seatbelt domain. The REV7 seatbelt …

Plk1 bound to Bub1 contributes to spindle assembly checkpoint activity during mitosis

M Ikeda, K Tanaka - Scientific reports, 2017‏ - nature.com
For faithful chromosome segregation, the formation of stable kinetochore–microtubule
attachment and its monitoring by the spindle assembly checkpoint (SAC) are coordinately …