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https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#1
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28424069/ankplex-algorithmic-structure-for-refinement-of-near-native-ankyrin-protein-docking
#2
Tanchanok Wisitponchai, Watshara Shoombuatong, Vannajan Sanghiran Lee, Kuntida Kitidee, Chatchai Tayapiwatana
BACKGROUND: Computational analysis of protein-protein interaction provided the crucial information to increase the binding affinity without a change in basic conformation. Several docking programs were used to predict the near-native poses of the protein-protein complex in 10 top-rankings. The universal criteria for discriminating the near-native pose are not available since there are several classes of recognition protein. Currently, the explicit criteria for identifying the near-native pose of ankyrin-protein complexes (APKs) have not been reported yet...
April 19, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28421082/insights-into-the-structure-function-and-ion-mediated-signaling-pathways-transduced-by-plant-integrin-linked-kinases
#3
Sorina C Popescu, Elizabeth K Brauer, Gizem Dimlioglu, George V Popescu
Kinases facilitate detection of extracellular signals and set in motion cellular responses for plant adaptation and survival. Some of the energy utilized for kinase signal processing is produced through the activity of ion transporters. Additionally, the synergy between cellular ions and signal transduction influences plant response to pathogens, and their growth and development. In plants, the signaling elements that connect cell wall and membrane sensors with ion homeostasis and transport-mediated processes are largely unknown...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28414301/striatopallidal-dysfunction-underlies-repetitive-behavior-in-shank3-deficient-model-of-autism
#4
Wenting Wang, Chenchen Li, Qian Chen, Marie-Sophie van der Goes, James Hawrot, Annie Y Yao, Xian Gao, Congyi Lu, Ying Zang, Qiangge Zhang, Katherine Lyman, Dongqing Wang, Baolin Guo, Shengxi Wu, Charles R Gerfen, Zhanyan Fu, Guoping Feng
The postsynaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (SHANK3) is critical for the development and function of glutamatergic synapses. Disruption of the SHANK3-encoding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming and social interaction deficits. Although basal ganglia dysfunction has been proposed to underlie repetitive behaviors, few studies have provided direct evidence to support this notion and the exact cellular mechanisms remain largely unknown...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28414299/an-indirect-route-to-repetitive-actions
#5
David M Lovinger
It is increasingly evident that there is a genetic contribution to autism spectrum disorders (ASDs) and other neural disorders involving excessive repetition of action sequences. Among the implicated genes in these disorders are those encoding postsynaptic scaffolding proteins with roles in synaptic transmission and plasticity. Several mouse models harboring synonymous mutations have shown alterations in synaptic transmission within the striatum, which has key roles in controlling actions and action sequences...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28411148/behavioural-characterization-of-ankyring-deficient-mice-a-model-for-ank3-related-disorders
#6
I M van der Werf, D Van Dam, S Missault, B Yalcin, P P De Deyn, G Vandeweyer, R F Kooy
ANK3 encodes AnkyrinG (AnkG), a member of the Ankyrin family that is expressed in several different isoforms in many tissues. A unique serine-rich domain and tail domain in the two largest isoforms of AnkG (270 and 480kDa), restrict AnkG to the axon initial segment and nodes of Ranvier of myelinated neurons. At these sites, AnkG is a master regulator, coordinating the strict clustering of components necessary for proper action potential initiation and propagation along the axon. These components include voltage-gated sodium channels, potassium channels and members of the L1 cell adhesion molecule family...
April 11, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28387769/-99-tc-m-octreotide-scintigraphy-and-serum-eye-muscle-antibodies-in-evaluation-of-active-thyroid-associated-ophthalmopathy
#7
B Sun, Z Zhang, C Dong, Y Zhang, C Yan, S Li
PurposeAs an autoimmune inflammatory disorder, active thyroid-associated ophthalmopathy (TAO) is managed optimally by immunosuppression. In this study, we aimed to evaluate octreotide scintigraphy and the level of serum extraocular muscle antibodies in TAO activity.Patients and methodsThis prospective study comprised 304 patients with active TAO (the clinical activity score; CAS≥3), 73 with inactive TAO (CAS<3), 128 with Graves' disease (GD) without ophthalmopathy, and 100 healthy subjects. Moderate-to-severe active TAO patients (CAS≥5) received intravenous injection of methylprednisolone; mild active patients (3≤CAS≤4) received periocular injection of triamcinolone acetonide...
April 7, 2017: Eye
https://www.readbyqxmd.com/read/28386322/glutathione-alleviated-peripheral-neuropathy-in-oxaliplatin-treated-mice-by-removing-aluminum-from-dorsal-root-ganglia
#8
Minji Lee, Sungrae Cho, Kangsan Roh, Jisook Chae, Jin-Hee Park, Jaehyun Park, Myung-Ah Lee, Jinheung Kim, Chung-Kyoon Auh, Chang-Hwan Yeom, Sukchan Lee
Oxaliplatin, a platinum-based anti-cancer drug, induces peripheral neuropathy as a side effect and causes cold hyperalgesia in cancer patients receiving anti-cancer chemotherapy. In oxaliplatin-treated mice, aluminum was accumulated in the dorsal root ganglia (DRG), and accumulated aluminum in DRG or other organs aggravated oxaliplatin-induced neuropathic pain. To investigate whether aluminum oxalate, which is the compound of aluminum and oxaliplatin, might be the peripheral neuropathy inducer, the withdrawal responses of mice to coldness, the expression of transient receptor potential ankyrin 1 and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assays in DRG were analyzed in mice administered with aluminum oxalate...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28378773/polysulfides-h2sn-produced-from-the-interaction-of-hydrogen-sulfide-h2s-and-nitric-oxide-no-activate-trpa1-channels
#9
Ryo Miyamoto, Shin Koike, Yoko Takano, Norihiro Shibuya, Yuka Kimura, Kenjiro Hanaoka, Yasuteru Urano, Yuki Ogasawara, Hideo Kimura
Hydrogen sulfide (H2S) exerts synergistic effects with another gaseous signaling molecule nitric oxide (NO) on ion channels and vasculature. However, the mechanism of the synergy is not well understood. Here, we show that the interaction between H2S and NO generates polysulfides (H2Sn), which activate transient receptor potential ankyrin 1 (TRPA1) channels. High performance liquid chromatography with tandem mass spectrometry analysis, along with the imaging of intracellular Ca(2+) and H2Sn, showed that H2Sn and their effects were abolished by cyanolysis and by reducing substances such as dithiothreitol (DTT), cysteine, and glutathione (GSH)...
April 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28370084/trpa1-contributed-to-the-neuropathic-pain-induced-by-docetaxel-treatment
#10
Kun Huang, Donglin Bian, Bin Jiang, Qixi Zhai, Ningning Gao, Ruiying Wang
Peripheral mechanical neuropathic pain is a serious side effect of docetaxel chemotherapy for cancer. However, the underlying mechanism for this side effect is unknown. In the present study, we found that docetaxel treatment induced mechanical allodynia in rats. We further revealed that the transient receptor potential ankyrin subtype 1 protein (TRPA1) protein level is upregulated and the TRPA1 activator allyl isothiocyanate induced larger ion currents in the dorsal root ganglion neurons from the docetaxel treated rats...
April 2017: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/28369144/ankrd54-preferentially-selects-bruton-s-tyrosine-kinase-btk-from-a-human-src-homology-3-sh3-domain-library
#11
Manuela O Gustafsson, Dara K Mohammad, Erkko Ylösmäki, Hyunseok Choi, Subhash Shrestha, Qing Wang, Beston F Nore, Kalle Saksela, C I Edvard Smith
Bruton's Tyrosine Kinase (BTK) is a cytoplasmic protein tyrosine kinase with a fundamental role in B-lymphocyte development and activation. The nucleocytoplasmic shuttling of BTK is specifically modulated by the Ankyrin Repeat Domain 54 (ANKRD54) protein and the interaction is known to be exclusively SH3-dependent. To identify the spectrum of the ANKRD54 SH3-interactome, we applied phage-display screening of a library containing all the 296 human SH3 domains. The BTK-SH3 domain was the prime interactor. Quantitative western blotting analysis demonstrated the accuracy of the screening procedure...
2017: PloS One
https://www.readbyqxmd.com/read/28364279/trpv1-and-trpa1-in-cutaneous-neurogenic-and-chronic-inflammation-pro-inflammatory-response-induced-by-their-activation-and-their-sensitization
#12
REVIEW
Olivier Gouin, Killian L'Herondelle, Nicolas Lebonvallet, Christelle Le Gall-Ianotto, Mehdi Sakka, Virginie Buhé, Emmanuelle Plée-Gautier, Jean-Luc Carré, Luc Lefeuvre, Laurent Misery, Raphaele Le Garrec
Cutaneous neurogenic inflammation (CNI) is inflammation that is induced (or enhanced) in the skin by the release of neuropeptides from sensory nerve endings. Clinical manifestations are mainly sensory and vascular disorders such as pruritus and erythema. Transient receptor potential vanilloid 1 and ankyrin 1 (TRPV1 and TRPA1, respectively) are non-selective cation channels known to specifically participate in pain and CNI. Both TRPV1 and TRPA1 are co-expressed in a large subset of sensory nerves, where they integrate numerous noxious stimuli...
March 31, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28345660/zinc-deficiency-and-low-enterocyte-zinc-transporter-expression-in-human-patients-with-autism-related-mutations-in-shank3
#13
Stefanie Pfaender, Ann Katrin Sauer, Simone Hagmeyer, Katharina Mangus, Leonhard Linta, Stefan Liebau, Juergen Bockmann, Guillaume Huguet, Thomas Bourgeron, Tobias M Boeckers, Andreas M Grabrucker
Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper (Cu) in hair samples from individuals with PMDS with 22q13.3 deletion including SHANK3 (SH3 and multiple ankyrin repeat domains 3), we report a high rate of abnormally low Zn/Cu ratios...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28336332/how-to-use-and-integrate-bioinformatics-tools-to-compare-proteomic-data-from-distinct-conditions-a-tutorial-using-the-pathological-similarities-between-aortic-valve-stenosis-and-coronary-artery-disease-as-a-case-study
#14
Fábio Trindade, Rita Ferreira, Beatriz Magalhães, Adelino Leite-Moreira, Inês Falcão-Pires, Rui Vitorino
Nowadays we are surrounded by a plethora of bioinformatics tools, powerful enough to deal with the large amounts of data arising from proteomic studies, but whose application is sometimes hard to find. Therefore, we used a specific clinical problem - to discriminate pathophysiology and potential biomarkers between two similar cardiovascular diseases, aortic valve stenosis (AVS) and coronary artery disease (CAD) - to make a step-by-step guide through four bioinformatics tools: STRING, DisGeNET, Cytoscape and ClueGO...
March 20, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28332719/rs7968606-polymorphism-of-anks1b-is-associated-with-improvement-in-the-panss-general-score-of-schizophrenia-caused-by-amisulpride
#15
Seung-Gul Kang, Ik-Seung Chee, Kwanghun Lee, Jonghun Lee
A recent genome-wide pharmacogenomics study showed that the rs7968606 single-nucleotide polymorphism (SNP) of the ankyrin repeat and sterile alpha motif domain-containing protein 1B (ANKS1B) gene approached the threshold of statistical significance. The aim of this study was to determine the association between the rs7968606 SNP of ANKS1B and the treatment response to amisulpride in schizophrenia patients. In total, 154 participants were enrolled from six university hospitals in Korea. All the subjects were interviewed before and after 6 weeks of amisulpride treatment with the aid of the positive and negative syndrome scale and the clinical global impression-severity scale...
March 2017: Human Psychopharmacology
https://www.readbyqxmd.com/read/28323555/influence-of-dopamine-related-genes-on-neurobehavioral-recovery-after-traumatic-brain-injury-during-early-childhood
#16
Amery Treble-Barna, Shari L Wade, Lisa J Martin, Valentina Pilipenko, Keith Owen Yeates, H Gerry Taylor, Brad G Kurowski
The present study examined the association of dopamine-related genes with short- and long-term neurobehavioral recovery, as well as neurobehavioral recovery trajectories over time, in children who had sustained early childhood traumatic brain injuries (TBI) relative to children who had sustained orthopedic injuries (OI). Participants were recruited from a prospective, longitudinal study evaluating outcomes of children who sustained a TBI (n = 68) or OI (n = 72) between the ages of 3 and 7 years. Parents completed ratings of child executive function and behavior at the immediate post-acute period (0-3 months after injury); 6, 12, and 18 months after injury; and an average of 3...
March 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28321389/host-fih-mediated-asparaginyl-hydroxylation-of-translocated-legionella-pneumophila-effectors
#17
Christopher Price, Michael Merchant, Snake Jones, Ashley Best, Juanita Von Dwingelo, Matthew B Lawrenz, Nawsad Alam, Ora Schueler-Furman, Yousef A Kwaik
FIH-mediated post-translational modification through asparaginyl hydroxylation of eukaryotic proteins impacts regulation of protein-protein interaction. We have identified the FIH recognition motif in 11 Legionella pneumophila translocated effectors, YopM of Yersinia, IpaH4.5 of Shigella and an ankyrin protein of Rickettsia. Mass spectrometry analyses of the AnkB and AnkH effectors of L. pneumophila confirm their asparaginyl hydroxylation. Consistent with localization of the AnkB effector to the Legionella-containing vacuole (LCV) membrane and its modification by FIH, our data show that FIH and its two interacting proteins, Mint3 and MT1-MMP are acquired by the LCV in a Dot/Icm type IV secretion-dependent manner...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28320952/identification-of-a-putative-binding-site-critical-for-general-anesthetic-activation-of-trpa1
#18
Hoai T Ton, Thieu X Phan, Ara M Abramyan, Lei Shi, Gerard P Ahern
General anesthetics suppress CNS activity by modulating the function of membrane ion channels, in particular, by enhancing activity of GABAA receptors. In contrast, several volatile (isoflurane, desflurane) and i.v. (propofol) general anesthetics excite peripheral sensory nerves to cause pain and irritation upon administration. These noxious anesthetics activate transient receptor potential ankyrin repeat 1 (TRPA1), a major nociceptive ion channel, but the underlying mechanisms and site of action are unknown...
April 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28319202/evolving-notch-polyq-tracts-reveal-possible-solenoid-interference-elements
#19
Albert J Erives
Polyglutamine (polyQ) tracts in regulatory proteins are extremely polymorphic. As functional elements under selection for length, triplet repeats are prone to DNA replication slippage and indel mutations. Many polyQ tracts are also embedded within intrinsically disordered domains, which are less constrained, fast evolving, and difficult to characterize. To identify structural principles underlying polyQ tracts in disordered regulatory domains, here I analyze deep evolution of metazoan Notch polyQ tracts, which can generate alleles causing developmental and neurogenic defects...
2017: PloS One
https://www.readbyqxmd.com/read/28319008/structure-of-yeast-osbp-related-protein-osh1-reveals-key-determinants-for-lipid-transport-and-protein-targeting-at-the-nucleus-vacuole-junction
#20
Mohammad Kawsar Manik, Huiseon Yang, Junsen Tong, Young Jun Im
Yeast Osh1 belongs to the oxysterol-binding protein (OSBP) family of proteins and contains multiple targeting modules optimized for lipid transport at the nucleus-vacuole junction (NVJ). The key determinants for NVJ targeting and the role of Osh1 at NVJs have remained elusive because of unknown lipid specificities. In this study, we determined the structures of the ankyrin repeat domain (ANK), and OSBP-related domain (ORD) of Osh1, in complex with Nvj1 and ergosterol, respectively. The Osh1 ANK forms a unique bi-lobed structure that recognizes a cytosolic helical segment of Nvj1...
April 4, 2017: Structure
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