Actin assembly mechanisms at a glance

K Rottner, J Faix, S Bogdan, S Linder… - Journal of cell …, 2017 - journals.biologists.com
The actin cytoskeleton and associated motor proteins provide the driving forces for
establishing the astonishing morphological diversity and dynamics of mammalian cells …

Model organisms facilitate rare disease diagnosis and therapeutic research

MF Wangler, S Yamamoto, HT Chao, JE Posey… - Genetics, 2017 - academic.oup.com
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …

Mechanisms of formin-mediated actin assembly and dynamics

N Courtemanche - Biophysical reviews, 2018 - Springer
Cellular viability requires tight regulation of actin cytoskeletal dynamics. Distinct families of
nucleation-promoting factors enable the rapid assembly of filament nuclei that elongate and …

Genetics of intellectual disability in consanguineous families

H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig… - Molecular …, 2019 - nature.com
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

R Harripaul, N Vasli, A Mikhailov, MA Rafiq… - Molecular …, 2018 - nature.com
Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

Actin out: regulation of the synaptic cytoskeleton

EF Spence, SH Soderling - Journal of Biological Chemistry, 2015 - ASBMB
The small size of dendritic spines belies the elaborate role they play in excitatory synaptic
transmission and ultimately complex behaviors. The cytoskeletal architecture of the spine is …

Model of neural development by differentiating human induced pluripotent stem cells into neural progenitor cells to study the neurodevelopmental toxicity of lead

W Wang, T Wang, Y Gao, G Liang, Y Pu… - Food and Chemical …, 2023 - Elsevier
Lead (Pb) exposure causes immeasurable damage to multiple human systems, particularly
the central nervous system (CNS). In this study, human induced pluripotent stem cells …

Characterization of circular RNA s landscape in multiple system atrophy brain

BJ Chen, JD Mills, K Takenaka, N Bliim… - Journal of …, 2016 - Wiley Online Library
Circular RNA s (circ RNA s) have been recently identified as a naturally occurring family of
widespread and diverse endogenous non‐coding RNA s that may regulate gene expression …

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation …

R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to undertake a multidisciplinary characterization of the phenotype
associated with SOX11 variants. Methods Individuals with protein altering variants in SOX11 …

Stabilization of dynamic microtubules by mDia1 drives Tau-dependent Aβ1–42 synaptotoxicity

X Qu, FN Yuan, C Corona, S Pasini, ME Pero… - Journal of Cell …, 2017 - rupress.org
Oligomeric Amyloid β1–42 (Aβ) plays a crucial synaptotoxic role in Alzheimer's disease, and
hyperphosphorylated tau facilitates Aβ toxicity. The link between Aβ and tau, however …