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PubMed Journals Articles About "Impaired Chromaffin Cells Excitability Exocytosis Autistic Timothy Syndrome" RSS

13:12 EDT 19th March 2019 | BioPortfolio

Impaired Chromaffin Cells Excitability Exocytosis Autistic Timothy Syndrome PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Impaired Chromaffin Cells Excitability Exocytosis Autistic Timothy Syndrome articles that have been published worldwide.

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Showing "Impaired chromaffin cells excitability exocytosis autistic Timothy syndrome" PubMed Articles 1–25 of 28,000+

Impaired chromaffin cells excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.

Tymothy syndrome (TS) is a multisystem disorder featuring cardiac arrhythmias, autism and adrenal gland dysfunction that originates from a de-novo point-mutation in the gene encoding Cav1.2 (CACNA1C) L-type channel. To study the role of Cav1.2 channel signals on autism, the autistic TS2-neo mouse has been generated bearing the G406R point-mutation associated with TS type-2. Using heterozygous TS2-neo mice, we report that the G406R mutation reduces the rate of inactivation and shifts leftward the activation ...


The firing frequency of spontaneous action potentials and their corresponding evoked exocytosis are increased in chromaffin cells of CCl -induced cirrhotic rats with respect to control rats.

High catecolamine plasma levels due to Sympathetic Nervous System (SNS) overactivity contribute to cirrhosis progression. The aim of the present study was to investigate whether chromaffin cells of the adrenal gland might potentiate the deleterious effect exerted by this overactivity. Electrophysiological patch-clamp and amperometric experiments with carbon-fibre electrodes were conducted in single chromaffin cells of control and CCl -induced cirrhotic rats. The spontaneous action potential (sAP) firing fre...

RNA-seq of Isolated Chromaffin Cells Highlights the Role of Sex-Linked and Imprinted Genes in Adrenal Medulla Development.

Adrenal chromaffin cells and sympathetic neurons synthesize and release catecholamines, and both cell types are derived from neural crest precursors. However, they have different developmental histories, with sympathetic neurons derived directly from neural crest precursors while adrenal chromaffin cells arise from neural crest-derived cells that express Schwann cell markers. We have sought to identify the genes, including imprinted genes, which regulate the development of the two cell types in mice. We dev...


Expression of Transcription Factor PRH/Hhex in Adrenal Chromaffin Cells in the Postnatal Development and Its Role in the Regulation of Proliferative Processes.

Transcription factor PRH/Hhex suppresses cell proliferation and contributes to regulation of prenatal and postnatal ontogeny. Neurons of the peripheral nervous system and chromaffin cells were previously considered as non-expressing PRH/Hhex in postnatal development. In our study, the expression of PRH/Hhex in chromaffin cells of rat adrenal glands and association between the decrease of proliferation and activation of PRH/Hhex expression were demonstrated.

Interrenal tissue, chromaffin cells and corpuscles of Stannius of Nile tilapia (Oreochromis niloticus).

Twenty-three fishes were used to study the structure and ultrastructure of interrenal tissue, chromaffin cells and corpuscles of Stannius of Nile tilapia. The interrenal tissue and chromaffin cells are present within the head kidney. The interrenal tissue is arranged in the form of highly convoluted cords, bordered by the lining endothelium of the adjacent sinusoids. It has no connective tissue capsule. The cytoplasm of the interrenal cells contains abundance of mitochondria, vacuoles and smooth endoplasmic...

Phosphorylation cycling of Annexin A2 Tyr23 is critical for calcium-regulated exocytosis in neuroendocrine cells.

Annexin A2 (AnxA2) is a calcium and lipid binding protein involved in neuroendocrine secretion. We have previously demonstrated that AnxA2 participates in the formation and/or stabilization of lipid microdomains required for structural and spatial organization of the exocytotic machinery in chromaffin cells. However, the regulation of AnxA2 is not fully understood. Numerous phosphorylation sites have been identified in the amino-terminal domain of AnxA2. Phosphorylation of Ser25 and Tyr23 are well establish...

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.

Loss of function in the Scn1a gene leads to a severe epileptic encephalopathy called Dravet syndrome (DS). Reduced excitability in cortical inhibitory neurons is thought to be the major cause of DS seizures. Here, in contrast, we show enhanced excitability in thalamic inhibitory neurons that promotes the non-convulsive seizures that are a prominent yet poorly understood feature of DS. In a mouse model of DS with a loss of function in Scn1a, reticular thalamic cells exhibited abnormally long bursts of firing...

Expression pattern of delta-like 1 homolog in developing sympathetic neurons and chromaffin cells.

Delta-like 1 homolog (DLK1) is a member of the epidermal growth factor (EGF)-like family and an atypical notch ligand that is widely expressed during early mammalian development with putative functions in the regulation of cell differentiation and proliferation. During later stages of development, DLK1 is downregulated and becomes increasingly restricted to specific cell types, including several types of endocrine cells. DLK1 has been linked to various tumors and associated with tumor stem cell features. Sy...

Variations in adrenal gland medulla and dopamine effects induced by the lack of Irs2.

The adrenomedullary chromaffin cells' hormonal pathway has been related to the pathophysiology of diabetes mellitus. In mice, the deletion of insulin receptor substrate type 2 (Irs2) causes peripheral insulin resistance and reduction in β-cell mass, leading to overt diabetes, with gender differences on adrenergic signaling. To further unravel the relevance of Irs2 on glycemic control, we analyzed in adult Irs2 deficient (Irs2) mice, of both sexes but still normoglycemic, dopamine effects on insulin secreti...

Studies of the Secretory Machinery Dynamics by Total Internal Reflection Fluorescence Microscopy in Bovine Adrenal Chromaffin Cells.

Cultured bovine chromaffin cells have been tested as a successful neuroendocrine model to study the secretory process. Changes in the dynamics of the secretory vesicles and the exocytotic machinery microdomains could be studied in control and stimulated conditions using appropriate molecular tools such as fluorescent SNARE protein expression or fluorochrome vesicular labeling in these neuroendocrine cells. Since most of these changes occur in or near the plasma membrane, the use of the total internal reflec...

Blue toe syndrome as a clinical finding of pheochromocytoma.

Pheochromocytomas are tumors that arise from chromaffin cells of the sympathetic nervous system and act by synthesizing and releasing catecholamines. They usually occur between the fourth and fifth decade of life and have a very wide clinical presentation. They occur only in 0.1-0.2% of the hypertensive population and represent a treatable and curable cause of arterial hypertension, as well as other symptoms derived from the uncontrolled secretion of catecholamines. Peripheral arterial ischemia secondary to...

ELKS/Voltage-Dependent Ca Channel-β Subunit Module Regulates Polarized Ca Influx in Pancreatic β Cells.

Pancreatic β cells secrete insulin by Ca-triggered exocytosis. However, there is no apparent secretory site similar to the neuronal active zones, and the cellular and molecular localization mechanism underlying polarized exocytosis remains elusive. Here, we report that ELKS, a vertebrate active zone protein, is used in β cells to regulate Ca influx for insulin secretion. β cell-specific ELKS-knockout (KO) mice showed impaired glucose-stimulated first-phase insulin secretion and reduced L-type voltage-de...

Pheochromocytoma-related cardiomyopathy presenting as broken heart syndrome: Case report and literature review.

Pheochromocytoma are neuroendocrine tumors that arise from sympathetic chromaffin cells within the adrenal medulla. They principally secrete catecholamines, potentially causing life-threatening cardiovascular complications. A myriad of symptomatology and clinical findings are associated with pheochromocytoma, including a catecholamine-induced dilated cardiomyopathy.

Stability of Autistic Traits from 5 to 8 Years of Age Among Children in the General Population.

Little is known about the across time stability of autistic traits during the transition period from preschool to school age in the general population. The current study compared autistic traits assessed by a mother-reported quantitative measure, the Social Responsiveness Scale, at age 5 and 8 years and examined the intraclass correlation coefficients of scores across the period for 168 Japanese community-based children. Results showed that total and two subdomain-related autistic trait scores remained pri...

Regional Volumetric Abnormalities in Pediatric Autism Revealed by Structural Magnetic Resonance Imaging.

Autism is a group of complex neurodevelopmental disorders characterized by impaired social interaction, restricted and repetitive behavior. We performed a large-scale retrospective analysis of 1,996 structural magnetic resonance imaging (MRI) examinations of the brain from 1,769 autistic and neurologically typically developing patients (aged 0 to 32 years), and extracted regional volumetric measurements distributed across 463 brain regions of each patient. The youngest autistic patients (< 2.5 years) were...

Identification of β-synuclein on secretory granules in chromaffin cells and the effects of α- and β-synuclein on post-fusion BDNF discharge and fusion pore expansion.

α-Synuclein is strongly implicated in the pathogenesis of Parkinson's disease as well as in other neurodegenerative diseases. However, its normal function in cells is not understood. The N-termini of α-, β-, and γ-synuclein contains six to seven 11-amino acid repeats that are predicted to form amphipathic helices. Membrane-binding and membrane-curving abilities of synuclein raise the possibility that synuclein could alter cellular processes that involve highly curved structures. In the present study we ...

Autistic traits impact on olfactory processing in adolescent girls with Anorexia Nervosa restricting type.

The correct functioning of the chemosensory pathway is pivotal for the attitude towards feeding. In some neuropsychiatric disorders, abnormalities of the sensory processing dramatically affect feeding behavior; however, evidences for an olfactory involvement in Anorexia Nervosa (AN) are still controversial. We administered a complete olfactory testing battery, the Sniffin' Sticks Extended Test, to a cohort of 19 girls with Restrictive Anorexia Nervosa (AN-R) and 19 healthy controls. A battery of questionnai...

Mitochondrial Populations Exhibit Differential Dynamic Responses to Increased Energy Demand during Exocytosis In Vivo.

Mitochondria are dynamic organelles undergoing fission, fusion, and translocation. These processes have been studied in cultured cells; however, little is known about their regulation in cells within tissues in vivo. We applied four-dimensional intravital microscopy to address this in secretory cells of the salivary gland. We found that mitochondria are organized in two populations: one juxtaposed to the basolateral plasma membrane and the other dispersed in the cytosol. Under basal conditions, central mit...

Calcium stores regulate excitability in cultured rat hippocampal neurons.

Extracellular calcium ions support synaptic activity, but also reduce excitability of central neurons. In the present study, the effect of calcium on excitability was explored in cultured hippocampal neurons. CaCl injected by pressure in the vicinity of a neuron that is bathed only in MgCl as the main divalent cation, caused a depolarizing shift in action potential threshold and a reduction in excitability. This effect was not seen if the intracellular milieu consisted of Cs instead of K-gluconate as the ma...

Imaging SNAP-29 in Drosophila.

SNAP-29 is expressed throughout the life cycle of fruit fly and exhibits wide tissue distribution patterns. Unlike other SNAP-25-like proteins (i.e., SNAP-25, SNAP-23/24, and SNAP-47) which primarily support exocytosis at the plasma membrane, SNAP-29 regulates various intracellular trafficking events, by partnering with proteins active in both exocytosis and endocytosis. Here we describe the protocol to localize SNAP-29 in early embryos, imaginal discs from third instar larva, and immortalized S2 cells via ...

B cells in Sjögren's syndrome: from pathophysiology to therapeutic target.

Biological abnormalities associated with B lymphocytes are a hallmark of patients with primary Sjögren's syndrome. Those patients present abnormal distribution of B lymphocytes in peripheral blood and B cells in exocrine glands. B cells produce auto-antibodies, cytokines and present antigens but can also suppressive functions. In this review, we will summarize current knowledge on B cells in primary Sjögren's syndrome patients, demonstrate their critical role in the immunopathology of the disease and desc...

University Students with Autism: The Social and Academic Experiences of University in the UK.

The number of university students with autism is increasing, and it is crucial that these students can access adequate support. An online questionnaire was completed by 26 autistic students and 158 non-autistic students enrolled at UK universities to investigate social and academic experiences. Autistic students self-reported significant challenges and more mental health difficulties than non-autistic students. Significant challenges focused on the social components of university life, including social skil...

Osteoporosis and dry eye syndrome: A previously unappreciated association that may alert active prevention of fall.

Osteoporosis is a multifactorial disease associated with inflammation and hormone imbalance. It is noteworthy that dry eye syndrome shares a similar pathophysiology with osteoporosis. Both diseases are more prevalent among the elderly and females. Dry eye syndrome can result in impaired vision, which increases the risk of fall and fracture when osteoporosis exists. In this study, we investigated whether osteoporosis is associated with an increased risk of developing dry eye syndrome.

Social Decision Making in Autistic Adolescents: The Role of Theory of Mind, Executive Functioning and Emotion Regulation.

Social decision making is often challenging for autistic individuals. Twenty autistic adolescents made decisions in the socially interactive context of a one-shot ultimatum game, and performance was compared to a large matched typical reference sample. Theory of mind, executive functioning and emotion regulation were measured via direct assessments, self- and parent report. Relative to the reference sample, autistic adolescents proposed fewer fair offers, and this was associated with poorer theory of mind. ...

Autistic traits and sleep in typically developing adolescents.

Diagnosed autism spectrum disorders have been associated with a high prevalence of sleep problems, other psychiatric disorders and social deficits in adolescence. However, little is known about the possible connection between subclinical autistic traits and sleep. This study explored whether adolescents with elevated levels of subclinical autistic traits are at heightened risk for sleep problems.


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