Zinc finger proteins in neuro-related diseases progression

S Bu, Y Lv, Y Liu, S Qiao, H Wang - Frontiers in neuroscience, 2021 - frontiersin.org
Zinc finger proteins (ZNF) are among the most abundant proteins in eukaryotic genomes. It
contains several zinc finger domains that can selectively bind to certain DNA or RNA and …

Williams syndrome

BA Kozel, B Barak, CA Kim, CB Mervis… - Nature Reviews …, 2021 - nature.com
Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

Bromodomain drug discovery–the past, the present, and the future

M Pervaiz, P Mishra, S Günther - The Chemical Record, 2018 - Wiley Online Library
With the bromodomain (BRD) inhibitor JQ1, a remarkable success story of BRD4 as a novel
drug target has been set off that yielded many anti‐cancer drugs that are now in clinical …

Neocortical neurogenesis and the etiology of autism spectrum disorder

A Packer - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
Researchers have now identified many highly penetrant genetic risk factors for autism
spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …

[HTML][HTML] The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes

M Gabriele, AL Tobon, G D'Agostino, G Testa - Progress in Neuro …, 2018 - Elsevier
The complexity of the human brain emerges from a long and finely tuned developmental
process orchestrated by the crosstalk between genome and environment. Vis à vis other …

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

TK Doktor, Y Hua, HS Andersen, S Brøner… - Nucleic acids …, 2017 - academic.oup.com
Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient
levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed ubiquitously and …

Quantity as a fish views it: Behavior and neurobiology

A Messina, D Potrich, M Perrino… - Frontiers in …, 2022 - frontiersin.org
An ability to estimate quantities, such as the number of conspecifics or the size of a predator,
has been reported in vertebrates. Fish, in particular zebrafish, may be instrumental in …

Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders

NC Anderson, PF Chen, K Meganathan, WA Saber… - Stem cell reports, 2021 - cell.com
Reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) and their
differentiation into neural lineages is a revolutionary experimental system for studying …

baz1b loss-of-function in zebrafish produces phenotypic alterations consistent with the domestication syndrome

JV Torres-Pérez, S Anagianni, AM Mech, W Havelange… - Iscience, 2023 - cell.com
BAZ1B is a ubiquitously expressed nuclear protein with roles in chromatin remodeling, DNA
replication and repair, and transcription. Reduced BAZ1B expression disrupts neuronal and …

Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review

CA Serrano-Juárez, B Prieto-Corona… - Neuropsychology …, 2023 - Springer
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the
q11. 23 region of chromosome 7. Recent case series reports and clinical case studies have …