Actin assembly mechanisms at a glance
The actin cytoskeleton and associated motor proteins provide the driving forces for
establishing the astonishing morphological diversity and dynamics of mammalian cells …
establishing the astonishing morphological diversity and dynamics of mammalian cells …
Model organisms facilitate rare disease diagnosis and therapeutic research
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …
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 …
nucleation-promoting factors enable the rapid assembly of filament nuclei that elongate and …
Genetics of intellectual disability in consanguineous families
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …
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
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 …
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 …
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 …
the central nervous system (CNS). In this study, human induced pluripotent stem cells …
Characterization of circular RNA s landscape in multiple system atrophy brain
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 …
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 …
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 …
hyperphosphorylated tau facilitates Aβ toxicity. The link between Aβ and tau, however …