Neurobiology of Disease, 2018 Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. TSC mutations lead to a range of neurological manifestations including epilepsy, cognitive impairment ...
Shruti Bagla +7 more
doaj +1 more source
Frontiers in Cellular Neuroscience, 2019 Epilepsy is a common neurological disorder characterized by recurrent and unprovoked seizures thought to arise from impaired balance between neuronal excitation and inhibition.
Phan Q. Duy +7 more
doaj +1 more source
Genome-Wide Mapping of in Vivo Protein-DNA Interactions [PDF]
, 2007 In vivo protein-DNA interactions connect each transcription factor with its direct targets to form a gene network scaffold. To map these protein-DNA interactions comprehensively across entire mammalian genomes, we developed a large-scale chromatin ...
Johnson, David S. +3 more
core +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
A Neural “Tuning Curve” for Multisensory Experience and Cognitive-Perceptual Schizotypy [PDF]
, 2016 Our coherent perception of external events is enabled by the integration of inputs from different senses occurring within a range of temporal offsets known as the temporal binding window (TBW), which varies from person to person.
Antonio Ferretti +15 more
core +1 more source
Lack of the Sodium-Driven Chloride Bicarbonate Exchanger NCBE Impairs Visual Function in the Mouse Retina [PDF]
, 2012 Regulation of ion and pH homeostasis is essential for normal neuronal function. The sodium-driven chloride bicarbonate exchanger NCBE (Slc4a10), a member of the SLC4 family of bicarbonate transporters, uses the transmembrane gradient of sodium to drive ...
Dedek, Karin +12 more
core +3 more sources
A Novel View on the Role of Intracellular Tails in Surface Delivery of the Potassium-Chloride Cotransporter KCC2 [PDF]
, 2017 A plethora of neurological disorders are associated with alterations in the expression and localization of potassium-chloride cotransporter type 2 (KCC2), making KCC2 a critical player in neuronal function and an attractive target for therapeutic ...
Agez, Morgane +6 more
core +3 more sources
Interleukin-1 receptor type 1 is over-expressed in neurons but not in glial cells within the rat superficial spinal dorsal horn in complete Freund adjuvant induced inflammatory pain [PDF]
, 2017 K
Antal, Miklós +10 more
core +1 more source
Development and validation of MethylCog, a blood DNA methylation proxy for cognition
Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.Abstract INTRODUCTION Heterogeneity in cognitive ability increases with age and predicts mild cognitive impairment (MCI) and dementia, but scalable blood‐based biomarkers are lacking. We developed and validated MethylCog, a parsimonious DNA methylation (DNAm) marker of general cognitive ability (g).
Deirdre M. O'Shea +9 more
wiley +1 more source
Cortical cells reveal APP as a new player in the regulation of GABAergic neurotransmission
Scientific Reports, 2017 The amyloid precursor protein (APP) modulates synaptic activity, resulting from the fine tuning of excitatory and inhibitory neurotransmission. GABAergic inhibitory neurotransmission is affected by modifications in intracellular chloride concentrations ...
Anna Doshina +12 more
doaj +1 more source