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The Ulysses syndrome of the patient with chronic coronary syndrome.
Eur Heart J
January 2025
University Clinical Centre of Serbia, Medical School, Cardiology Clinic, University of Belgrade, Pasterova 2, 11000 Belgrade, Serbia.
Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether.
Int J Mol Sci
December 2022
Department of Biotechnology and Life Sciences (DBSV), Centre of NeuroScience, University of Insubria, 21052 Busto Arsizio, Italy.
CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills. CDD is caused by mutations in cyclin-dependent kinase-like 5 (CDKL5), which plays a well-known role in regulating excitatory neurotransmission, while its effect on neuronal inhibition has been poorly investigated. We explored the potential role of CDKL5 in the inhibitory compartment in -KO male mice and primary hippocampal neurons and found that CDKL5 interacts with gephyrin and collybistin, two crucial organisers of the inhibitory postsynaptic sites.
View Article and Find Full Text PDFThe Ductal Plate From the Inside Out: An Illustrated Review of Fibropolycystic Liver Disease.
Semin Ultrasound CT MR
December 2022
Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil; Grupo Fleury, São Paulo, Brazil.
Article Synopsis
- Fibropolycystic liver disease encompasses a range of disorders linked to defects in the ductal plate during development, including Caroli's syndrome, polycystic liver disease, biliary hamartomas, and congenital hepatic fibrosis.
- These conditions are often linked to kidney issues like polycystic kidney disease and medullary sponge kidney, with choledochal cysts being debated regarding their inclusion in this spectrum due to differing origins.
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Clinical and radiological improvement of protracted COVID-19 and Good syndrome secondary to advanced thymoma.
Pulmonology
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Hospital Beneficência Portuguesa de São Paulo, São Paulo, Brazil.
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Hum Mol Genet
August 2022
Department of Biotechnology and Life Sciences (DBSV), Centre of NeuroScience, University of Insubria, Busto Arsizio, Italy.
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a neurodevelopmental disease characterized by severe infantile seizures and intellectual disability. The absence of CDKL5 in mice causes defective spine maturation that can at least partially explain the cognitive impairment in CDKL5 patients and CDD mouse models. The molecular basis for such defect may depend on the capacity of CDKL5 to regulate microtubule (MT) dynamics through its association with the MT-plus end tracking protein CLIP170 (cytoplasmic linker protein 170).
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