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https://www.readbyqxmd.com/read/27774050/regulation-of-mrna-translation-by-mid1-a-common-mechanism-of-expanded-cag-repeat-rnas
#1
Nadine Griesche, Judith Schilling, Stephanie Weber, Marlena Rohm, Verena Pesch, Frank Matthes, Georg Auburger, Sybille Krauss
Expansion of CAG repeats, which code for the disease-causing polyglutamine protein, is a common feature in polyglutamine diseases. RNA-mediated mechanisms that contribute to neuropathology in polyglutamine diseases are important. RNA-toxicity describes a phenomenon by which the mutant CAG repeat RNA recruits RNA-binding proteins, thereby leading to aberrant function. For example the MID1 protein binds to mutant huntingtin (HTT) RNA, which is linked to Huntington's disease (HD), at its CAG repeat region and induces protein synthesis of mutant protein...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/26208502/atxn2-is-a-modifier-of-phenotype-in-als-patients-of-sardinian-ancestry
#2
Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Leslie D Parish, Tea B Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E Renton, Mike A Nalls, Bryan J Traynor, Gabriella Restagno, Adriano Chiò
Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs...
October 2015: Neurobiology of Aging
https://www.readbyqxmd.com/read/25995375/p-body-assembly-requires-ddx6-repression-complexes-rather-than-decay-or-ataxin2-2l-complexes
#3
Jessica Ayache, Marianne Bénard, Michèle Ernoult-Lange, Nicola Minshall, Nancy Standart, Michel Kress, Dominique Weil
P-bodies are cytoplasmic ribonucleoprotein granules involved in posttranscriptional regulation. DDX6 is a key component of their assembly in human cells. This DEAD-box RNA helicase is known to be associated with various complexes, including the decapping complex, the CPEB repression complex, RISC, and the CCR4/NOT complex. To understand which DDX6 complexes are required for P-body assembly, we analyzed the DDX6 interactome using the tandem-affinity purification methodology coupled to mass spectrometry. Three complexes were prominent: the decapping complex, a CPEB-like complex, and an Ataxin2/Ataxin2L complex...
July 15, 2015: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/22425256/ataxin2-cag-repeat-length-in-italian-patients-with-amyotrophic-lateral-sclerosis-risk-factor-or-variant-phenotype-implication-for-genetic-testing-and-counseling
#4
Cinzia Gellera, Nicola Ticozzi, Viviana Pensato, Lorenzo Nanetti, Alessia Castucci, Barbara Castellotti, Giuseppe Lauria, Franco Taroni, Vincenzo Silani, Caterina Mariotti
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly involving cortical and spinal motor neurons. Several studies indicated that intermediate CAG expansions in ataxin-2 gene (ATXN2) are associated with increased risk of ALS. We analyzed ATXN2 CAG repeats in 658 sporadic ALS patients (SALS), 143 familial ALS cases (FALS), 231 sporadic ataxic subjects, and 551 control subjects. The frequency of ATXN2 alleles with 27-30 repeats was similar in SALS and control subjects. Fifteen SALS subjects carried ≥ 31 CAG repeats...
August 2012: Neurobiology of Aging
https://www.readbyqxmd.com/read/19043961/-molecular-analysis-of-the-cag-repeat-among-patients-with-type-2-spinocerebellar-ataxia-in-the-mexican-population
#5
Jonathan J Magaña, María Dolores Vergara, Mónica Sierra-Martínez, Elvia García-Jiménez, Facundo Rodríguez-Antonio, María del Rocío Gómez, Margarita Valdés-Flores, Bulmaro Cisneros
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. METHODS: We determined by PCR and capillary electrophoresis the number of ataxin2 gene CAG repeats in 66 individuals belonging to 3 families, clinically diagnosed with SCA2, and 400 subjects from a sample of the mestizo Mexican population...
September 2008: Gaceta Médica de México
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