Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein
CASK-related disorders are a form of rare X-linked neurological diseases and most of the
patients are females. They are characterized by several symptoms, including microcephaly …
patients are females. They are characterized by several symptoms, including microcephaly …
Crosstalk among calcium ATPases: PMCA, SERCA and SPCA in mental diseases
Calcium in mammalian neurons is essential for developmental processes, neurotransmitter
release, apoptosis, and signal transduction. Incorrectly processed Ca2+ signal is well …
release, apoptosis, and signal transduction. Incorrectly processed Ca2+ signal is well …
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
E Rosenhahn, TJ O'Brien, MS Zaki, I Sorge… - The American Journal of …, 2022 - cell.com
PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal
outgrowth and synapse formation in Drosophila melanogaster. By exome and genome …
outgrowth and synapse formation in Drosophila melanogaster. By exome and genome …
[HTML][HTML] Noncoding transcripts are linked to brain resting-state activity in non-human primates
Brain-derived transcriptomes are known to correlate with resting-state brain activity in
humans. Whether this association holds in nonhuman primates remains uncertain. Here, we …
humans. Whether this association holds in nonhuman primates remains uncertain. Here, we …
CASK mediates oxidative stress-induced microglial apoptosis-inducing factor-independent parthanatos cell death via promoting PARP-1 hyperactivation and …
Calcium/calmodulin-dependent serine protein kinase (CASK) is a scaffold protein and plays
critical roles in neuronal synaptic formation and brain development. Previously, CASK was …
critical roles in neuronal synaptic formation and brain development. Previously, CASK was …
[HTML][HTML] CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons
Summary Loss-of-function (LOF) mutations in CASK cause severe developmental
phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked …
phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked …
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
F Mastropasqua, M Oksanen, C Soldini… - Biology …, 2023 - journals.biologists.com
ABSTRACT Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U
(HNRNPU) have been identified in several neurodevelopmental disorders (NDDs) …
(HNRNPU) have been identified in several neurodevelopmental disorders (NDDs) …
MicroRNAs and Synapse Turnover in Alzheimer's Disease
Alzheimer's Disease (AD) is a progressive neurodegenerative disorder characterized by the
accumulation of amyloid-beta plaques and neurofibrillary tangles in the brain, leading to …
accumulation of amyloid-beta plaques and neurofibrillary tangles in the brain, leading to …
Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery
JA Tello, L Jiang, Y Zohar, LL Restifo - Neural Development, 2023 - Springer
Background CASK-related neurodevelopmental disorders are untreatable. Affected children
show variable severity, with microcephaly, intellectual disability (ID), and short stature as …
show variable severity, with microcephaly, intellectual disability (ID), and short stature as …
Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development
E Cesari, D Farini, V Medici, I Ehrmann… - Nucleic Acids …, 2024 - academic.oup.com
Sam68 and SLM2 are paralog RNA binding proteins (RBPs) expressed in the cerebral
cortex and display similar splicing activities. However, their relative functions during cortical …
cortex and display similar splicing activities. However, their relative functions during cortical …