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https://www.readbyqxmd.com/read/29735730/unpicking-allosteric-mechanisms-of-homo-oligomeric-proteins-by-determining-their-successive-ligand-binding-constants
#1
REVIEW
Ranit Gruber, Amnon Horovitz
Advances in native mass spectrometry and single-molecule techniques have made it possible in recent years to determine the values of successive ligand binding constants for large multi-subunit proteins. Given these values, it is possible to distinguish between different allosteric mechanisms and, thus, obtain insights into how various bio-molecular machines work. Here, we describe for ring-shaped homo-oligomers, in particular, how the relationship between the values of successive ligand binding constants is diagnostic for concerted, sequential and probabilistic allosteric mechanisms...
June 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29735727/allostery-and-molecular-machines
#2
George H Lorimer, Amnon Horovitz, Tom McLeish
No abstract text is available yet for this article.
June 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29649318/confined-placental-mosaicism-revisited-impact-on-pregnancy-characteristics-and-outcome
#3
Jérôme Toutain, Damien Goutte-Gattat, Jacques Horovitz, Robert Saura
OBJECTIVES: We wanted to re-evaluate the influence of confined placental mosaicism subtypes (type 2 and type 3) on pregnancy characteristics and outcome. MATERIAL AND METHODS: From July 2009 to December 2015, 5512 chorionic villus samplings were performed in our Fetal Medicine Center. Conventional karyotyping was performed after long-term and short-term cultured villi to define type 2 or type 3 confined placental mosaicisms. Karyotype after amniocentesis was performed to exclude true fetal mosaicism, when appropriate...
2018: PloS One
https://www.readbyqxmd.com/read/29593476/novel-and-recurrent-mutations-in-the-fgfr3-gene-and-double-heterozygosity-cases-in-a-cohort-of-brazilian-patients-with-skeletal-dysplasia
#4
Maria E S Gomes, Thatiane Y Kanazawa, Fernanda R Riba, Natálya G Pereira, Maria C C Zuma, Natana C Rabelo, Maria T Sanseverino, Dafne D G Horovitz, Juan C Llerena, Denise P Cavalcanti, Sayonara Gonzalez
Mutations in the fibroblast growth factor receptor 3 gene ( FGFR3 ) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the FGFR3 gene were PCR amplified and sequenced. All cases had recurrent mutations related to ACH, HCH, TDI or TDII, except for 2 patients. One of them had a classical TDI phenotype but a typical ACH mutation (c.1138G>A) in combination with a novel c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29508906/pedunculopontine-nucleus-cholinergic-deficiency-in-cervical-dystonia
#5
Karin Mente, Nancy A Edwards, Demelio Urbano, Abhik Ray-Chaudhury, Diego Iacono, Ana Tereza Di Lorenzo Alho, Eduardo Joaquim Lopes Alho, Edson Amaro, Silvina G Horovitz, Mark Hallett
BACKGROUND: The etiology of cervical dystonia is unknown. Cholinergic abnormalities have been identified in dystonia animal models and human imaging studies. Some animal models have cholinergic neuronal loss in the striatum and increased acetylcholinesterase activity in the pedunculopontine nucleus. OBJECTIVES: The objective of this study was to determine the presence of cholinergic abnormalities in the putamen and pedunculopontine nucleus in cervical dystonia human brain donors...
March 6, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29477940/fingerprints-of-single-nuclear-spin-energy-levels-using-stm-endor
#6
Yishay Manassen, Michael Averbukh, Moamen Jbara, Bernhard Siebenhofer, Alexander Shnirman, Baruch Horovitz
We performed STM-ENDOR experiments where the intensity of one of the hyperfine components detected in ESR-STM is recorded while an rf power is irradiated into the tunneling junction and its frequency is swept. When the latter frequency is near a nuclear transition a dip in ESR-STM signal is observed. This experiment was performed in three different systems: near surface SiC vacancies where the electron spin is coupled to a next nearest neighbor 29 Si nucleus; Cu deposited on Si(111)7x7 surface, where the unpaired electron of the Cu atom is coupled to the Cu nucleus (63 Cu, 65 Cu) and on Tempo molecules adsorbed on Au(111), where the unpaired electron is coupled to a Nitrogen nucleus (14 N)...
April 2018: Journal of Magnetic Resonance
https://www.readbyqxmd.com/read/29438383/comparative-genomic-analysis-of-mollicutes-with-and-without-a-chaperonin-system
#7
COMPARATIVE STUDY
Dominik Schwarz, Orit Adato, Amnon Horovitz, Ron Unger
The GroE chaperonin system, which comprises GroEL and GroES, assists protein folding in vivo and in vitro. It is conserved in all prokaryotes except in most, but not all, members of the class of mollicutes. In Escherichia coli, about 60 proteins were found to be obligatory clients of the GroE system. Here, we describe the properties of the homologs of these GroE clients in mollicutes and the evolution of chaperonins in this class of bacteria. Comparing the properties of these homologs in mollicutes with and without chaperonins enabled us to search for features correlated with the presence of GroE...
2018: PloS One
https://www.readbyqxmd.com/read/29412316/when-rarity-is-an-asset-political-activism-for-the-rights-of-persons-with-rare-diseases-in-the-brazilian-unified-national-health-system
#8
Martha Cristina Nunes Moreira, Marcos Antonio Ferreira do Nascimento, Dafne Dain Gandelman Horovitz, Antilia Januaria Martins, Marcia Pinto
No abstract text is available yet for this article.
February 5, 2018: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29317261/insulin-induced-translocation-of-ir-to-the-nucleus-in-insulin-responsive-cells-requires-a-nuclear-translocation-sequence
#9
Dov Kesten, Miriam Horovitz-Fried, Tamar Brutman-Barazani, Sanford R Sampson
Insulin binding to its cell surface receptor (IR) activates a cascade of events leading to its biological effects. The Insulin-IR complex is rapidly internalized and then is either recycled back to the plasma membrane or sent to lysosomes for degradation. Although most of the receptor is recycled or degraded, a small amount may escape this pathway and migrate to the nucleus of the cell where it might be important in promulgation of receptor signals. In this study we explored the mechanism by which insulin induces IR translocation to the cell nucleus...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29314214/oral-and-craniofacial-manifestations-in-a-hunter-syndrome-patient-with-hematopoietic-stem-cell-transplantation-a-case-report
#10
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Fábio Ribeiro Guedes, Liana Bastos Freitas-Fernandes, Anneliese Lopes Barth, Dafne Dain Gandelman Horovitz, Ivete Pomarico Ribeiro de Souza
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally...
January 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29170079/practical-management-of-behavioral-problems-in-mucopolysaccharidoses-disorders
#11
REVIEW
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe, Hernán Amartino
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29066625/local-energetic-frustration-affects-the-dependence-of-green-fluorescent-protein-folding-on-the-chaperonin-groel
#12
COMPARATIVE STUDY
Boudhayan Bandyopadhyay, Adi Goldenzweig, Tamar Unger, Orit Adato, Sarel J Fleishman, Ron Unger, Amnon Horovitz
The GroE chaperonin system in Escherichia coli comprises GroEL and GroES and facilitates ATP-dependent protein folding in vivo and in vitro Proteins with very similar sequences and structures can differ in their dependence on GroEL for efficient folding. One potential but unverified source for GroEL dependence is frustration, wherein not all interactions in the native state are optimized energetically, thereby potentiating slow folding and misfolding. Here, we chose enhanced green fluorescent protein as a model system and subjected it to random mutagenesis, followed by screening for variants whose in vivo folding displays increased or decreased GroEL dependence...
December 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29062685/loss-of-inhibition-in-sensorimotor-networks-in-focal-hand-dystonia
#13
Cecile Gallea, Priyantha Herath, Valerie Voon, Alicja Lerner, John Ostuni, Ziad Saad, Shantalaxmi Thada, Jeffrey Solomon, Silvina G Horovitz, Mark Hallett
OBJECTIVE: To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). METHODS: 18 patients with FHD of the right hand and 18 age and gender matched healthy volunteers (HV) participated in this study. We measured the density of GABA-A receptors using [11 C] Flumazenil and perfusion using [15 O] H2 O. Anatomical images were also used to measure grey matter volume with voxel-based morphometry (VBM)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#14
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28918368/gnptab-missense-mutations-cause-loss-of-glcnac-1-phosphotransferase-activity-in-mucolipidosis-type-ii-through-distinct-mechanisms
#15
Nataniel Floriano Ludwig, Renata Voltolini Velho, Fernanda Sperb-Ludwig, Angelina Xavier Acosta, Erlane Marques Ribeiro, Chong A Kim, Dafne Dain Gandelman Horovitz, Raquel Boy, Maria Juliana Rodovalho-Doriqui, Charles Marques Lourenço, Emerson Santana Santos, Thomas Braulke, Sandra Pohl, Ida Vanessa D Schwartz
Mucolipidoses (ML) II and III alpha/beta are lysosomal storage diseases caused by pathogenic mutations in GNPTAB encoding the α⁄β-subunit precursor of GlcNAc-1-phosphotransferase. To determine genotype-phenotype correlation and functional analysis of mutant GlcNAc-1-phosphotransferase, 13 Brazilian patients clinically and biochemical diagnosed for MLII or III alpha/beta were studied. By sequencing of genomic GNPTAB of the MLII and MLIII alpha/beta patients we identified six novel mutations: p.D76G, p.S385L, p...
November 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28794496/measuring-inter-protein-pairwise-interaction-energies-from-a-single-native-mass-spectrum-by-double-mutant-cycle-analysis
#16
Miri Sokolovski, Jelena Cveticanin, Déborah Hayoun, Ilia Korobko, Michal Sharon, Amnon Horovitz
The strength and specificity of protein complex formation is crucial for most life processes and is determined by interactions between residues in the binding partners. Double-mutant cycle analysis provides a strategy for studying the energetic coupling between amino acids at the interfaces of such complexes. Here we show that these pairwise interaction energies can be determined from a single high-resolution native mass spectrum by measuring the intensities of the complexes formed by the two wild-type proteins, the complex of each wild-type protein with a mutant protein, and the complex of the two mutant proteins...
August 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28761589/the-role-of-urinary-cytology-when-diagnostic-workup-is-suspicious-for-upper-tract-urothelial-carcinoma-but-tumour-biopsy-is-nonconfirmatory
#17
David Horovitz, Yifan Meng, Jean V Joseph, Changyong Feng, Guan Wu, Hani Rashid, Edward M Messing
INTRODUCTION: We sought to determine the value of obtaining preoperative urinary cytology when diagnostic workup of an upper tract mass is suspicious for upper tract urothelial carcinoma (UTUC), but biopsy fails to confirm the diagnosis. METHODS: Using billing code data, 239 patients were identified as having undergone radical nephroureterectomy (RNU) by 16 urologists from September 29, 1998 to July 31, 2015. Of this group, 19 adult patients had a presumed preoperative diagnosis of UTUC in a native kidney, at least three months of followup, no history of concurrent radical cystectomy with RNU, and negative/non-diagnostic tissue biopsy...
July 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28758982/n-doped-tio%C3%A2-coated-ceramic-membrane-for-carbamazepine-degradation-in-different-water-qualities
#18
Enbal Luster, Dror Avisar, Inna Horovitz, Luca Lozzi, Mark A Baker, Rossana Grilli, Hadas Mamane
The photocatalytic degradation of the model pollutant carbamazepine (CBZ) was investigated under simulated solar irradiation with an N-doped TiO₂-coated Al₂O₃ photocatalytic membrane, using different water types. The photocatalytic membrane combines photocatalysis and membrane filtration in a single step. The impact of each individual constituent such as acidity, alkalinity, dissolved organic matter (DOM), divalent cations (Mg(2+) and Ca(2+)), and Cl(-) on the degradation of CBZ was examined. CBZ in water was efficiently degraded by an N-doped TiO₂-coated Al₂O₃ membrane...
July 31, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28741376/rate-of-symptomatic-lymphocele-formation-after-extraperitoneal-vs-transperitoneal-robot-assisted-radical-prostatectomy-and-bilateral-pelvic-lymphadenectomy
#19
David Horovitz, Xiang Lu, Changyong Feng, Edward M Messing, Jean V Joseph
INTRODUCTION AND OBJECTIVE: With the peritoneum acting as a natural surface for lymphatic reabsorption, transperitoneal robot-assisted radical prostatectomy (tRARP) is thought to be associated with a lower incidence of symptomatic lymphoceles (SLs) compared with its extraperitoneal counterpart (eRARP) when bilateral pelvic lymph node dissection (BPLND) is performed. In this study, we aim to determine if there is a difference in SL formation and characteristics between the two approaches...
October 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#20
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
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