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https://www.readbyqxmd.com/read/28640691/the-nesprin-cytoskeleton-interface-probed-directly-on-single-nuclei-is-a-mechanically-rich-system
#1
Daniel A Balikov, Sonia K Brady, Ung Hyun Ko, Jennifer H Shin, Jose M de Pereda, Arnoud Sonnenberg, Hak-Joon Sung, Matthew J Lang
The cytoskeleton provides structure and plays an important role in cellular function such as migration, resisting compression forces, and transport. The cytoskeleton also reacts to physical cues such as fluid shear stress or extracellular matrix remodeling by reorganizing filament associations, most commonly focal adhesions and cell-cell cadherin junctions. These mechanical stimuli can result in genome-level changes, and the physical connection of the cytoskeleton to the nucleus provides an optimal conduit for signal transduction by interfacing with nuclear envelope proteins, called nesprins, within the LINC (linker of the nucleus to the cytoskeleton) complex...
June 22, 2017: Nucleus
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#2
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28634183/syk-inhibitors-interfere-with-erythrocyte-membrane-modification-during-p-falciparum-growth-and-suppress-parasite-egress
#3
Antonella Pantaleo, Kristina R Kesely, Maria Carmina Pau, Ioannis Tsamesidis, Evelin Schwarzer, Oleksii A Skorokhod, Huynh D Chien, Marta Ponzi, Lucia Bertuccini, Philip S Low, Francesco M Turrini
Band 3 (a.k.a. the anion exchanger, SLCA1, AE1) constitutes the major attachment site of the spectrin-based cytoskeleton to the erythrocyte's lipid bilayer and thereby contributes critically to the stability of the red cell membrane. During the intra-erythrocytic stage of Plasmodium falciparum's life cycle, band 3 becomes tyrosine phosphorylated in response to oxidative stress, leading to a decrease in its affinity for the spectrin/actin cytoskeleton and causing global membrane destabilization. Because this membrane weakening is hypothesized to facilitate parasite egress and the consequent dissemination of released merozoites throughout the bloodstream, we decided to explore which tyrosine kinase inhibitors might block the kinase-induced membrane destabilization...
June 20, 2017: Blood
https://www.readbyqxmd.com/read/28630467/computational-method-allowing-hydrogen-deuterium-exchange-mass-spectrometry-at-single-amide-resolution
#4
Chris Gessner, Wieland Steinchen, Sabrina Bédard, John J Skinner, Virgil L Woods, Thomas J Walsh, Gert Bange, Dionysios P Pantazatos
Hydrogen-deuterium exchange (HDX) coupled with mass spectrometry (HDXMS) is a rapid and effective method for localizing and determining protein stability and dynamics. Localization is routinely limited to a peptide resolution of 5 to 20 amino acid residues. HDXMS data can contain information beyond that needed for defining protein stability at single amide resolution. Here we present a method for extracting this information from an HDX dataset to generate a HDXMS protein stability fingerprint. High resolution (HR)-HDXMS was applied to the analysis of a model protein of a spectrin tandem repeat that exemplified an intuitive stability profile based on the linkage of two triple helical repeats connected by a helical linker...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28625779/multiple-isoforms-of-nesprin1-are-integral-components-of-ciliary-rootlets
#5
Chloe Potter, Wanqiu Zhu, David Razafsky, Philip Ruzycki, Alexander V Kolesnikov, Teresa Doggett, Vladimir J Kefalov, Ewelina Betleja, Moe R Mahjoub, Didier Hodzic
SYNE1 (synaptic nuclear envelope 1) encodes multiple isoforms of Nesprin1 (nuclear envelope spectrin 1) that associate with the nuclear envelope (NE) through a C-terminal KASH (Klarsicht/Anc1/Syne homology) domain (Figure 1A) [1-4]. This domain interacts directly with the SUN (Sad1/Unc84) domain of Sun proteins [5-7], a family of transmembrane proteins of the inner nuclear membrane (INM) [8, 9], to form the so-called LINC complexes (linkers of the nucleoskeleton and cytoskeleton) that span the entire NE and mediate nuclear positioning [10-12]...
June 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28619622/the-spectraplakins-of-caenorhabditis-elegans-cytoskeletal-crosslinkers-and-beyond
#6
REVIEW
Rong Fu, Xiaowan Jiang, Zhaohui Huang, Huimin Zhang
Spectraplakins are evolutionary conserved cytolinkers with characteristics of both the spectrin and the plakin family proteins. Caenorhabditis elegans possesses two categories of spectraplakin isoforms encoded by a single locus termed vab-10. Here we summarize the structure, homology, expression and functions of these spectraplakin family proteins in the nematode. We particularly focus on the diverse roles of VAB-10 isoforms in a number of organs and tissue types, as well as the similarities and distinctions of the underlying mechanisms...
June 12, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28615691/human-myogenic-reserve-cells-are-quiescent-stem-cells-that-contribute-to-muscle-regeneration-after-intramuscular-transplantation-in-immunodeficient-mice
#7
Thomas Laumonier, Flavien Bermont, Pierre Hoffmeyer, Vincent Kindler, Jacques Menetrey
Satellite cells, localized within muscles in vivo, are Pax7(+) muscle stem cells supporting skeletal muscle growth and regeneration. Unfortunately, their amplification in vitro, required for their therapeutic use, is associated with reduced regenerative potential. In the present study, we investigated if human myogenic reserve cells (MRC) obtained in vitro, represented a reliable cell source for muscle repair. For this purpose, primary human myoblasts were freshly isolated and expanded. After 2 days of differentiation, 62 ± 2...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28611576/maternal-different-degrees-of-iodine-deficiency-during-pregnant-and-lactation-impair-the-development-of-cerebellar-pinceau-in-offspring
#8
Jing Dong, Heling Song, Yuan Wang, Min Li, Ye Yu, Yi Wang, Jie Chen
Aims: Iodine is critical for synthesis of thyroid hormones (TH). And iodine deficiency (ID) is one of the most significant reasons of intellectual disability and motor memory impairment, although the potential mechanisms are still under investigation. Presently, mild ID and marginal ID are largely ignored problems for women of child bearing age. Mild ID is a subtle form of TH deficiency, which shows low levels of free thyroxine (FT4) and relatively normal free triiodothyronine (FT3) or thyroid stimulation hormone (TSH)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28582869/postnatal-development-of-spasticity-following-transgene-insertion-in-the-mouse-%C3%AE-iv-spectrin-gene-sptbn4
#9
Eva Kichkin, Archunan Visvanathan, Frank J Lovicu, Daisy Y Shu, Shannon J Das, Stephen W Reddel, Emily P McCann, Katharine Y Zhang, Kelly L Williams, Ian P Blair, William D Phillips
BACKGROUND: The L25 mouse line was generated by random genomic insertion of a lens-specific transgene. Inbreeding of L25 hemizygotes revealed an unanticipated spastic phenotype in the hind limbs. OBJECTIVE: The goals were to characterize the motor phenotype in the L25 mice and to map the transgene insert site within the mouse genome. METHODS: Six pairs of L25+/- mice were repeatedly mated. Beginning at weaning, all progeny were inspected for body weight and motor signs twice weekly until they displayed predefined ethical criteria for termination...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28579450/drosophila-short-stop-as-a-paradigm-for-the-role-and-regulation-of-spectraplakins
#10
REVIEW
Andre Voelzmann, Yu-Ting Liew, Yue Qu, Ines Hahn, Cristina Melero, Natalia Sánchez-Soriano, Andreas Prokop
Spectraplakins are evolutionarily well conserved cytoskeletal linker molecules that are true members of three protein families: plakins, spectrins and Gas2-like proteins. Spectraplakin genes encode at least 7 characteristic functional domains which are combined in a modular fashion into multiple isoforms, and which are responsible for an enormous breadth of cellular functions. These functions are related to the regulation of actin, microtubules, intermediate filaments, intracellular organelles, cell adhesions and signalling processes during the development and maintenance of a wide variety of tissues...
June 1, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28576936/%C3%AE-iii-spectrin-is-necessary-for-formation-of-the-constricted-neck-of-dendritic-spines-and-regulation-of-synaptic-activity-in-neurons
#11
Nadia Efimova, Farida Korobova, Michael C Stankewich, Andrew H Moberly, Donna B Stolz, Junling Wang, Anna Kashina, Minghong Ma, Tatyana Svitkina
Dendritic spines are postsynaptic structures in neurons often having a mushroom-like shape. Physiological significance and cytoskeletal mechanisms that maintain this shape are poorly understood. The spectrin-based membrane skeleton maintains the biconcave shape of erythrocytes, but whether spectrins also determine the shape of non-erythroid cells is less clear. We show that βIII spectrin in hippocampal and cortical neurons from rodent embryos of both sexes is distributed throughout the somatodendritic compartment, but is particularly enriched in the neck and base of dendritic spines and largely absent from spine heads...
June 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28572759/dendritic-actin-cytoskeleton-structure-functions-and-regulations
#12
REVIEW
Anja Konietzny, Julia Bär, Marina Mikhaylova
Actin is a versatile and ubiquitous cytoskeletal protein that plays a major role in both the establishment and the maintenance of neuronal polarity. For a long time, the most prominent roles that were attributed to actin in neurons were the movement of growth cones, polarized cargo sorting at the axon initial segment, and the dynamic plasticity of dendritic spines, since those compartments contain large accumulations of actin filaments (F-actin) that can be readily visualized using electron- and fluorescence microscopy...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28540413/a-recessive-mutation-in-beta-iv-spectrin-sptbn4-associates-with-congenital-myopathy-neuropathy-and-central-deafness
#13
Ellen Knierim, Esther Gill, Franziska Seifert, Susanne Morales-Gonzalez, Sathya D Unudurthi, Thomas J Hund, Werner Stenzel, Markus Schuelke
Congenital myopathies are a heterogeneous group of muscle disorders that are often genetically determined. Here, we investigated a boy with congenital myopathy, deafness, and neuropathy from a consanguineous Kurdish family by autozygosity mapping and whole exome sequencing. We found a homozygous nonsense mutation in SPTBN4 [c.1597C>T, NM_020971.2; p.(Q533*), NP_066022.2; ClinVar SUB2292235] encoding βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Western blot confirmed the absence of the full-length 288 kDa isoform in muscle and of a specific 72 kDa isoform in fibroblasts...
May 24, 2017: Human Genetics
https://www.readbyqxmd.com/read/28536678/the-role-and-mechanism-of-erythrocyte-invasion-by-francisella-tularensis
#14
Deanna M Schmitt, Rebecca Barnes, Taylor Rogerson, Ashley Haught, Leanne K Mazzella, Matthew Ford, Tricia Gilson, James W-M Birch, Anders Sjöstedt, Douglas S Reed, Jonathan M Franks, Donna B Stolz, James Denvir, Jun Fan, Swanthana Rekulapally, Donald A Primerano, Joseph Horzempa
Francisella tularensis is an extremely virulent bacterium that can be transmitted naturally by blood sucking arthropods. During mammalian infection, F. tularensis infects numerous types of host cells, including erythrocytes. As erythrocytes do not undergo phagocytosis or endocytosis, it remains unknown how F. tularensis invades these cells. Furthermore, the consequence of inhabiting the intracellular space of red blood cells (RBCs) has not been determined. Here, we provide evidence indicating that residing within an erythrocyte enhances the ability of F...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28536506/axonal-membranes-and-their-domains-assembly-and-function-of-the-axon-initial-segment-and-node-of-ranvier
#15
REVIEW
Andrew D Nelson, Paul M Jenkins
Neurons are highly specialized cells of the nervous system that receive, process and transmit electrical signals critical for normal brain function. Here, we review the intricate organization of axonal membrane domains that facilitate rapid action potential conduction underlying communication between complex neuronal circuits. Two critical excitable domains of vertebrate axons are the axon initial segment (AIS) and the nodes of Ranvier, which are characterized by the high concentrations of voltage-gated ion channels, cell adhesion molecules and specialized cytoskeletal networks...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28494946/tropomodulins-and-leiomodins-actin-pointed-end-caps-and-nucleators-in-muscles
#16
REVIEW
Velia M Fowler, Roberto Dominguez
Cytoskeletal structures characterized by actin filaments with uniform lengths, including the thin filaments of striated muscles and the spectrin-based membrane skeleton, use barbed and pointed-end capping proteins to control subunit addition/dissociation at filament ends. While several proteins cap the barbed end, tropomodulins (Tmods), a family of four closely related isoforms in vertebrates, are the only proteins known to specifically cap the pointed end. Tmods are ∼350 amino acids in length, and comprise alternating tropomyosin- and actin-binding sites (TMBS1, ABS1, TMBS2, and ABS2)...
May 9, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28476036/adducin-in-tumorigenesis-and-metastasis
#17
REVIEW
Cong Luo, Jiayu Shen
Adducin is a membrane-skeletal protein localized at spectrin-actin junctions, involving in the formation of the network of cytoskeleton, cellular signal transduction, ionic transportation, cell motility and cell proliferation. While previous researches focused mainly on the relationship between adducin and hypertension, there are few studies focusing on the role of adducin in tumor. Previous studies showed that adducin played a role in the evolution and progression of neoplasm. This review makes a brief summary on the structure, function and mechanism of adducin and how adducin functions in tumorigenesis and metastasis...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28469474/in-vitro-neurotoxicity-resulting-from-exposure-of-cultured-neural-cells-to-several-types-of-nanoparticles
#18
REVIEW
Stephen F Larner, Jonathan Wang, Jared Goodman, Megan B O'Donoghue Altman, Meiguo Xin, Kevin K W Wang
Laboratory and industrial production of various nanoparticles, single-walled nanotubes (SWNTs), fullerene (C60), cadmium selenide (CdSe) quantum dots, carbon black (CB), and dye-doped silica nanospheres (NSs), has greatly increased in the past 15 years. However, little research has been done to analyze the toxicity of these materials. With recent studies showing that nano-substances can cross the blood-brain barrier, we examined the neurotoxicity of these manufactured nanoparticles. By employing the rat PC-12 neuronal-like cell line as the basis for our studies, we were able to evaluate the toxicity caused by these five nanoparticles...
2017: Journal of Cell Death
https://www.readbyqxmd.com/read/28455372/regulation-of-neuromuscular-junction-organization-by-rab2-and-its-effector-ica69-in-drosophila
#19
Bhagaban Mallik, Manish Kumar Dwivedi, Zeeshan Mushtaq, Manisha Kumari, Praveen Kumar Verma, Vimlesh Kumar
Mechanisms underlying synaptic differentiation, which involves neuronal membrane and cytoskeletal remodeling, are not completely understood. We performed a targeted RNAi-mediated screen of Drosophila BAR-domain proteins and identified islet cell autoantigen 69 kDa (dICA69) as one of the key regulators of morphological differentiation of larval neuromuscular junction (NMJ). We show that Drosophila ICA69 colocalizes with α-Spectrin at the NMJ. The conserved N-BAR domain of dICA69 deforms liposomes in vitro Full length and ICAC but not the N-BAR domain of dICA69 induces filopodia in cultured cells...
April 28, 2017: Development
https://www.readbyqxmd.com/read/28447420/red-cell-membrane-disorders
#20
REVIEW
J Narla, N Mohandas
Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis)...
May 2017: International Journal of Laboratory Hematology
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