Voltage-gated calcium channels in nonexcitable tissues
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy
syndrome, a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted …
syndrome, a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted …
Calcium and activity-dependent signaling in the developing cerebral cortex
A Arjun McKinney, R Petrova… - Development, 2022 - journals.biologists.com
Calcium influx can be stimulated by various intra-and extracellular signals to set coordinated
gene expression programs into motion. As such, the precise regulation of intracellular …
gene expression programs into motion. As such, the precise regulation of intracellular …
[HTML][HTML] Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome
Defects in interneuron migration can disrupt the assembly of cortical circuits and lead to
neuropsychiatric disease. Using forebrain assembloids derived by integration of cortical and …
neuropsychiatric disease. Using forebrain assembloids derived by integration of cortical and …
Disrupted Cacna1c gene expression perturbs spontaneous Ca2+ activity causing abnormal brain development and increased anxiety
E Smedler, L Louhivuori… - Proceedings of the …, 2022 - National Acad Sciences
The L-type voltage-gated Ca2+ channel gene CACNA1C is a risk gene for various
psychiatric conditions, including schizophrenia and bipolar disorder. However, the cellular …
psychiatric conditions, including schizophrenia and bipolar disorder. However, the cellular …
Modeling human neurodevelopmental diseases with brain organoids
X Lu, J Yang, Y Xiang - Cell Regeneration, 2022 - Springer
Studying the etiology of human neurodevelopmental diseases has long been a challenging
task due to the brain's complexity and its limited accessibility. Human pluripotent stem cells …
task due to the brain's complexity and its limited accessibility. Human pluripotent stem cells …
Update on the molecular genetics of Timothy syndrome
R Bauer, KW Timothy, A Golden - Frontiers in pediatrics, 2021 - frontiersin.org
Timothy Syndrome (TS)(OMIM# 601005) is a rare autosomal dominant syndrome caused by
variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel …
variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel …
Making Ramón y Cajal proud: Development of cell identity and diversity in the cerebral cortex
DJ Di Bella, N Domínguez-Iturza, JR Brown, P Arlotta - Neuron, 2024 - cell.com
Since the beautiful images of Santiago Ramón y Cajal provided a first glimpse into the
immense diversity and complexity of cell types found in the cerebral cortex, neuroscience …
immense diversity and complexity of cell types found in the cerebral cortex, neuroscience …
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
Antisense oligonucleotide therapeutic approach for Timothy syndrome
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy,
long-QT syndrome and other neuropsychiatric conditions. TS type 1 (TS1) is caused by a …
long-QT syndrome and other neuropsychiatric conditions. TS type 1 (TS1) is caused by a …
Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …