Isaac N. Pessah
YOU?
Author Swipe
View article: Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations Open
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However…
View article: The α4 Nicotinic Acetylcholine Receptor Is Necessary for the Initiation of Organophosphate-Induced Neuronal Hyperexcitability
The α4 Nicotinic Acetylcholine Receptor Is Necessary for the Initiation of Organophosphate-Induced Neuronal Hyperexcitability Open
Acute intoxication with organophosphorus (OP) cholinesterase inhibitors can produce seizures that rapidly progress to life-threatening status epilepticus. Significant research effort has been focused on investigating the involvement of mus…
View article: The α4 nicotinic acetylcholine receptor is necessary for the initiation of organophosphate-induced neuronal hyperexcitability
The α4 nicotinic acetylcholine receptor is necessary for the initiation of organophosphate-induced neuronal hyperexcitability Open
Acute intoxication with organophosphorus (OP) cholinesterase inhibitors can produce seizures that rapidly progress to life-threatening status epilepticus . Significant research effort has been invested investigating the involvement of musc…
View article: The Piezo channel is a mechano-sensitive complex component in the mammalian inner ear hair cell
The Piezo channel is a mechano-sensitive complex component in the mammalian inner ear hair cell Open
View article: Ex vivo exposure to polybrominated diphenyl ether (PBDE) selectively affects the immune response in autistic children
Ex vivo exposure to polybrominated diphenyl ether (PBDE) selectively affects the immune response in autistic children Open
Children on the autism spectrum have been shown to have immune dysregulation that often correlates with behavioral deficits. The role of the post-natal environment in this dysregulation is an area of active investigation. We examined the a…
View article: The Piezo channel is central to the mechano-sensitive channel complex in the mammalian inner ear.
The Piezo channel is central to the mechano-sensitive channel complex in the mammalian inner ear. Open
The inner ear is the hub where hair cells transduce sound, gravity, and head acceleration stimuli carried by neural codes to the brain. Of all the senses, hearing and balance, which rely on mechanosensation, are the fastest sensory signals…
View article: Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance
Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance Open
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that manifests as a hypermetabolic state when carriers are exposed to halogenated volatile anesthetics or depolarizing muscle relaxants. In anima…
View article: Investigations into hydrogen sulfide-induced suppression of neuronal activity <i>in vivo</i> and calcium dysregulation <i>in vitro</i>
Investigations into hydrogen sulfide-induced suppression of neuronal activity <i>in vivo</i> and calcium dysregulation <i>in vitro</i> Open
Acute exposure to high concentrations of hydrogen sulfide (H2S) leads to sudden death and, if survived, lingering neurological disorders. Clinical signs include seizures, loss of consciousness, and dyspnea. The proximate mechanisms underly…
View article: Investigations into hydrogen sulfide-induced suppression of neuronal activity in vivo and calcium dysregulation in vitro
Investigations into hydrogen sulfide-induced suppression of neuronal activity in vivo and calcium dysregulation in vitro Open
Acute exposure to high concentrations of hydrogen sulfide (H 2 S) leads to sudden death and, if survived, lingering neurological disorders. Clinical signs include seizures, loss of consciousness, and dyspnea. The proximate mechanisms under…
View article: Ryanodine receptor-active non-dioxin-like polychlorinated biphenyls cause neurobehavioral deficits in larval zebrafish
Ryanodine receptor-active non-dioxin-like polychlorinated biphenyls cause neurobehavioral deficits in larval zebrafish Open
Although their production was banned in the United States in 1977, polychlorinated biphenyls (PCBs) continue to pose significant risks to the developing nervous system. Perinatal exposure to PCBs is associated with increased risk of neurop…
View article: Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism Open
View article: The seizure‐inducing plastic explosive <scp>RDX</scp> inhibits the <i>α</i>1<i>β</i>2<i>γ</i>2 <scp>GABA<sub>A</sub></scp> receptor
The seizure‐inducing plastic explosive <span>RDX</span> inhibits the <i>α</i>1<i>β</i>2<i>γ</i>2 <span>GABA<sub>A</sub></span> receptor Open
Objective Royal demolition explosive (RDX) can induce seizures in wildlife and humans following release into the environment or after voluntary consumption. During the Vietnam War, RDX intoxication was the most common cause of generalized …
View article: Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism Open
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation in the broader population. We build upon this observation an…
View article: Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium
Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium Open
Polychlorinated biphenyls (PCBs) are putative environmental risks for neurodevelopmental disorders. Here, we tested two hypotheses: (1) developmental exposure to a human-relevant PCB mixture causes behavioral phenotypes relevant to neurode…
View article: Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse
Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse Open
While many neurodevelopmental disorders (NDDs) are thought to result from interactions between environmental and genetic risk factors, the identification of specific gene-environment interactions that influence NDD risk remains a critical …
View article: Marine and Anthropogenic Bromopyrroles Alter Cellular Ca<sup>2+</sup> Dynamics of Murine Cortical Neuronal Networks by Targeting the Ryanodine Receptor and Sarco/Endoplasmic Reticulum Ca<sup>2+</sup>-ATPase
Marine and Anthropogenic Bromopyrroles Alter Cellular Ca<sup>2+</sup> Dynamics of Murine Cortical Neuronal Networks by Targeting the Ryanodine Receptor and Sarco/Endoplasmic Reticulum Ca<sup>2+</sup>-ATPase Open
Bromopyrroles (BrPyr) are synthesized naturally by marine sponge symbionts and produced anthropogenically as byproducts of wastewater treatment. BrPyr interact with ryanodine receptors (RYRs) and sarco/endoplasmic reticulum (SR/ER) Ca…
View article: Corrigendum: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome
Corrigendum: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome Open
[This corrects the article DOI: 10.3389/fmolb.2020.600840.].
View article: Surfactant cocamide monoethanolamide causes eye irritation by activating nociceptor TRPV1 channels
Surfactant cocamide monoethanolamide causes eye irritation by activating nociceptor TRPV1 channels Open
Background and Purpose Cocamide monoethanolamide (CMEA) is commonly used as a surfactant‐foam booster in cosmetic formulations. Upon contact with the eye or other sensitive skin areas, CMEA elicits stinging and lasting irritation. We hypot…
View article: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome
Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome Open
Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation CGG-repeat expansions (55–200 repeats) in the 5′ non-coding portion of the fragile X mental retardatio…
View article: Structure-Activity Relationship of Neuroactive Steroids, Midazolam, and Perampanel Toward Mitigating Tetramine-Triggered Activity in Murine Hippocampal Neuronal Networks
Structure-Activity Relationship of Neuroactive Steroids, Midazolam, and Perampanel Toward Mitigating Tetramine-Triggered Activity in Murine Hippocampal Neuronal Networks Open
Tetramethylenedisulfotetramine (tetramine or TETS), a potent convulsant, triggers abnormal electrical spike activity (ESA) and synchronous Ca2+ oscillation (SCO) patterns in cultured neuronal networks by blocking gamma-aminobutyric acid (G…
View article: Additional file 2 of Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome
Additional file 2 of Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome Open
This file contains raw data for the two MS analyses in the tabs labeled “Protein groups”; analyzed data to calculate relative percent abundances of identified proteins in the tabs labeled “Relative abundance”; and a list of the 176 protein…
View article: Non-dioxin-like polychlorinated biphenyl neurotoxic equivalents found in environmental and human samples
Non-dioxin-like polychlorinated biphenyl neurotoxic equivalents found in environmental and human samples Open
Non-dioxin like polychlorinated biphenyls (NDL PCB) are recognized neurotoxicants with implications on altered neurodevelopment and neurodegeneration in exposed organisms. NDL PCB neurotoxic relative potency schemes have been developed for…
View article: Ryanodine Receptor Type 2: A Molecular Target for Dichlorodiphenyltrichloroethane- and Dichlorodiphenyldichloroethylene-Mediated Cardiotoxicity
Ryanodine Receptor Type 2: A Molecular Target for Dichlorodiphenyltrichloroethane- and Dichlorodiphenyldichloroethylene-Mediated Cardiotoxicity Open
Dichlorodiphenyltrichloroethane (DDT) and its metabolite dichlorodiphenyl-dichloroethylene (DDE) are ubiquitously found in the environment and linked to cardiovascular diseases—with a majority of the work focused on hypertension. Studies i…
View article: Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice
Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice Open
View article: Sex‐specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia‐susceptible mice
Sex‐specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia‐susceptible mice Open
Malignant hyperthermia (MH) is characterized by induction of skeletal muscle hyperthermia in response to a dysregulated increase in myoplasmic calcium. Although altered energetics play a central role in MH, MH‐susceptible humans and mouse …
View article: Decision letter: Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline
Decision letter: Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Ryanodine receptor type I-rel…
View article: Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome
Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome Open
View article: Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice
Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice Open
View article: Influence of Nanomolar Deltamethrin on the Hallmarks of Primary Cultured Cortical Neuronal Network and the Role of Ryanodine Receptors
Influence of Nanomolar Deltamethrin on the Hallmarks of Primary Cultured Cortical Neuronal Network and the Role of Ryanodine Receptors Open
Our findings suggested that RyRs were sensitive molecular targets of DM with functional consequences likely relevant for mediating abnormal neuronal network connectivity in vitro. https://doi.org/10.1289/EHP4583.
View article: Interactions of Dichlorodiphenyltrichloroethane (DDT) and Dichlorodiphenyldichloroethylene (DDE) With Skeletal Muscle Ryanodine Receptor Type 1
Interactions of Dichlorodiphenyltrichloroethane (DDT) and Dichlorodiphenyldichloroethylene (DDE) With Skeletal Muscle Ryanodine Receptor Type 1 Open
Dichlorodiphenyltrichloroethane (DDT) and its metabolite dichlorodiphenyldichloroethylene (DDE) are ubiquitous in the environment and detected in tissues of living organisms. Although DDT owes its insecticidal activity to impeding closure …