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https://www.readbyqxmd.com/read/27601633/paxx-and-xlf-dna-repair-factors-are-functionally-redundant-in-joining-dna-breaks-in-a-g1-arrested-progenitor-b-cell-line
#1
Vipul Kumar, Frederick W Alt, Richard L Frock
Classical nonhomologous end joining (C-NHEJ) is a major mammalian DNA double-strand break (DSB) repair pathway. Core C-NHEJ factors, such as XRCC4, are required for joining DSB intermediates of the G1 phase-specific V(D)J recombination reaction in progenitor lymphocytes. Core factors also contribute to joining DSBs in cycling mature B-lineage cells, including DSBs generated during antibody class switch recombination (CSR) and DSBs generated by ionizing radiation. The XRCC4-like-factor (XLF) C-NHEJ protein is dispensable for V(D)J recombination in normal cells, but because of functional redundancy, it is absolutely required for this process in cells deficient for the ataxia telangiectasia-mutated (ATM) DSB response factor...
September 20, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27174690/a-preliminary-study-on-health-effects-in-villagers-exposed-to-mercury-in-a-small-scale-artisanal-gold-mining-area-in-indonesia
#2
Stephan Bose-O'Reilly, Rudolf Schierl, Dennis Nowak, Uwe Siebert, Jossep Frederick William, Fradico Teorgi Owi, Yuyun Ismawati Ir
Cisitu is a small-scale gold mining village in Indonesia. Mercury (Hg) is used to extract gold from ore, heavily polluting air, soil, fish and rice paddy fields with Hg. Rice in Cisitu is burdened with mercury. The main staple food of the inhabitants of Cisitu is this polluted rice. Villagers were concerned that the severe diseases they observed in the community might be related to their mining activities, including high mercury exposure. Case report of the medical examinations and the mercury levels in urine and hair of 18 people with neurological symptoms...
August 2016: Environmental Research
https://www.readbyqxmd.com/read/27069768/-11-c-pib-pet-in-gerstmann-str%C3%A3-ussler-scheinker-disease
#3
Kacie D Deters, Shannon L Risacher, Karmen K Yoder, Adrian L Oblak, Frederick W Unverzagt, Jill R Murrell, Francine Epperson, Eileen F Tallman, Kimberly A Quaid, Martin R Farlow, Andrew J Saykin, Bernardino Ghetti
Gerstmann-Sträussler-Scheinker Disease (GSS) is a familial neurodegenerative disorder characterized clinically by ataxia, parkinsonism, and dementia, and neuropathologically by deposition of diffuse and amyloid plaques composed of prion protein (PrP). The purpose of this study was to evaluate if [(11)C]Pittsburgh Compound B (PiB) positron emission tomography (PET) is capable of detecting PrP-amyloid in PRNP gene carriers. Six individuals at risk for GSS and eight controls underwent [(11)C]PiB PET scans using standard methods...
2016: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/26046155/listerial-brainstem-encephalitis-treatable-but-easily-missed
#4
P Fredericks, M Britz, R Eastman, J A Carr, K J Bateman
Listerial brainstem encephalitis (LBE) is an uncommon form of listerial central nervous system infection that progresses rapidly and is invariably fatal unless detected and treated early. We report on six adult patients with LBE, of whom five were managed or co-managed by our unit during the period January - June 2012. All presented with a short prodromal illness followed by a combination of brainstem signs, including multiple cranial nerve palsies with emphasis on the lower cranial nerves, ataxia, motor and sensory long-tract signs, a depressed level of consciousness and apnoea...
January 2015: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/26025783/natural-history-of-multiple-system-atrophy-in-the-usa-a-prospective-cohort-study
#5
MULTICENTER STUDY
Phillip A Low, Stephen G Reich, Joseph Jankovic, Clifford W Shults, Matthew B Stern, Peter Novak, Caroline M Tanner, Sid Gilman, Frederick J Marshall, Frederick Wooten, Brad Racette, Thomas Chelimsky, Wolfgang Singer, David M Sletten, Paola Sandroni, Jay Mandrekar
BACKGROUND: Multiple system atrophy is a rare, fatal neurodegenerative disorder with symptoms of autonomic failure plus parkinsonism, cerebellar ataxia, or both. We report results of the first prospective natural history study of multiple system atrophy in the USA, and the effects of phenotype and autonomic failure on prognosis. METHODS: We recruited participants with probable multiple system atrophy-of either the parkinsonism subtype (MSA-P) or the cerebellar ataxia subtype (MSA-C)-at 12 neurology centres in the USA specialising in movement or autonomic disorders...
July 2015: Lancet Neurology
https://www.readbyqxmd.com/read/26019327/a-murine-niemann-pick-c1-i1061t-knock-in-model-recapitulates-the-pathological-features-of-the-most-prevalent-human-disease-allele
#6
Maria Praggastis, Brett Tortelli, Jessie Zhang, Hideji Fujiwara, Rohini Sidhu, Anita Chacko, Zhouji Chen, Chan Chung, Andrew P Lieberman, Jakub Sikora, Cristin Davidson, Steven U Walkley, Nina H Pipalia, Frederick R Maxfield, Jean E Schaffer, Daniel S Ory
Niemann-Pick Type C1 (NPC1) disease is a rare neurovisceral, cholesterol-sphingolipid lysosomal storage disorder characterized by ataxia, motor impairment, progressive intellectual decline, and dementia. The most prevalent mutation, NPC1(I1061T), encodes a misfolded protein with a reduced half-life caused by ER-associated degradation. Therapies directed at stabilization of the mutant NPC1 protein reduce cholesterol storage in fibroblasts but have not been tested in vivo because of lack of a suitable animal model...
May 27, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/25721125/aberrant-tcr%C3%AE-rearrangement-underlies-the-t-cell-lymphocytopenia-and-t-12-14-translocation-associated-with-atm-deficiency
#7
Wenxia Jiang, Brian J Lee, Chen Li, Richard L Dubois, Monica Gostissa, Frederick W Alt, Shan Zha
Ataxia telangiectasia mutated (ATM) is a protein kinase and a master regulator of DNA-damage responses. Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopenia and greatly increased risk for T-cell lymphomas/leukemia. Both A-T and T-cell prolymphoblastic leukemia patients with somatic mutations of ATM frequently carry inv(14;14) between the T-cell receptor α/δ (TCRα/δ) and immunoglobulin H loci, but the molecular origin of this translocation remains elusive. ATM(-/-) mice recapitulate lymphocytopenia of A-T patients and routinely succumb to thymic lymphomas with t(12;14) translocation, syntenic to inv(14;14) in humans...
April 23, 2015: Blood
https://www.readbyqxmd.com/read/25423555/ataxia-telangiectasia-mutated-protein-kinase-levels-stratify-patients-with-pancreatic-adenocarcinoma-into-prognostic-subgroups-with-loss-being-a-strong-indicator-of-poor-survival
#8
Carsten Kamphues, Roberta Bova, Marcus Bahra, Frederick Klauschen, Alexander Muckenhuber, Bruno V Sinn, Arne Warth, Benjamin Goeppert, Volker Endris, Peter Neuhaus, Wilko Weichert, Albrecht Stenzinger
OBJECTIVES: Recently, aberrations in the gene encoding for ataxia-telangiectasia-mutated (ATM) protein kinase have been reported for pancreatic ductal adenocarcinomas (PDAC). These findings argue that ATM deficiency may play a role during carcinogenesis. Therefore, in this study, we investigated the clinical relevance of ATM expression and ATM activation in PDAC. METHODS: Both ATM expression and nuclear phosphoSer1981-ATM levels were assessed by immunohistochemistry in a cohort of 133 PDAC and correlated with clinicopathological parameters...
March 2015: Pancreas
https://www.readbyqxmd.com/read/25401298/a-recurrent-de-novo-mutation-in-kcnc1-causes-progressive-myoclonus-epilepsy
#9
COMPARATIVE STUDY
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betul Baykan, Edith Said, Meral Topcu, Patrizia Riguzzi, Mary D King, Cigdem Ozkara, Danielle M Andrade, Bernt A Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J Espay, Birgit Kauffmann, Michael Duchowny, Rikke S Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben-Zeev, Kaitlin E Samocha, Mark J Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3...
January 2015: Nature Genetics
https://www.readbyqxmd.com/read/24982162/developmental-propagation-of-v-d-j-recombination-associated-dna-breaks-and-translocations-in-mature-b-cells-via-dicentric-chromosomes
#10
Jiazhi Hu, Suprawee Tepsuporn, Robin M Meyers, Monica Gostissa, Frederick W Alt
Mature IgM(+) B-cell lymphomas that arise in certain ataxia telangiectasia-mutated (ATM)-deficient compound mutant mice harbor translocations that fuse V(D)J recombination-initiated IgH double-strand breaks (DSBs) on chromosome 12 to sequences downstream of c-myc on chromosome 15, generating dicentric chromosomes and c-myc amplification via a breakage-fusion-bridge mechanism. As V(D)J recombination DSBs occur in developing progenitor B cells in the bone marrow, we sought to elucidate a mechanism by which such DSBs contribute to oncogenic translocations/amplifications in mature B cells...
July 15, 2014: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/24913718/mechanisms-that-can-promote-peripheral-b-cell-lymphoma-in-atm-deficient-mice
#11
Suprawee Tepsuporn, Jiazhi Hu, Monica Gostissa, Frederick W Alt
The Ataxia Telangiectasia-mutated (ATM) kinase senses DNA double-strand breaks (DSB) and facilitates their repair. In humans, ATM deficiency predisposes to B- and T-cell lymphomas, but in mice it leads only to thymic lymphomas. We tested the hypothesis that increased DSB frequency at a cellular oncogene could promote B-cell lymphoma by generating ATM-deficient mice with a V(D)J recombination target (DJβ cassette) within c-myc intron 1 ("DA" mice). We also generated ATM-deficient mice carrying an Eμ-Bcl-2 transgene (AB mice) to test whether enhanced cellular survival could promote B-cell lymphomas...
September 2014: Cancer Immunology Research
https://www.readbyqxmd.com/read/24674624/functional-overlaps-between-xlf-and-the-atm-dependent-dna-double-strand-break-response
#12
REVIEW
Vipul Kumar, Frederick W Alt, Valentyn Oksenych
Developing B and T lymphocytes generate programmed DNA double strand breaks (DSBs) during the V(D)J recombination process that assembles exons that encode the antigen-binding variable regions of antibodies. In addition, mature B lymphocytes generate programmed DSBs during the immunoglobulin heavy chain (IgH) class switch recombination (CSR) process that allows expression of different antibody heavy chain constant regions that provide different effector functions. During both V(D)J recombination and CSR, DSB intermediates are sensed by the ATM-dependent DSB response (DSBR) pathway, which also contributes to their joining via classical non-homologous end-joining (C-NHEJ)...
April 2014: DNA Repair
https://www.readbyqxmd.com/read/24150595/mechanistic-insights-into-the-cytotoxicity-and-genotoxicity-induced-by-glycidamide-in-human-mammary-cells
#13
Susana Bandarra, Ana S Fernandes, Inês Magro, Patrícia S Guerreiro, Marta Pingarilho, Mona I Churchwell, Octávia Monteiro Gil, Ines Batinic-Haberle, Sandrina Gonçalves, José Rueff, Joana P Miranda, M Matilde Marques, Frederick A Beland, Matilde Castro, Jorge F Gaspar, Nuno G Oliveira
Acrylamide (AA) is a well-known industrial chemical classified as a probable human carcinogen. Benign and malignant tumours at different sites, including the mammary gland, have been reported in rodents exposed to AA. This xenobiotic is also formed in many carbohydrate-rich foods prepared at high temperatures. For this reason, AA is an issue of concern in terms of human cancer risk. The epoxide glycidamide (GA) is thought to be the ultimate genotoxic AA metabolite. Despite extensive experimental and epidemiological data focused on AA-induced breast cancer, there is still lack of information on the deleterious effects induced by GA in mammary cells...
November 2013: Mutagenesis
https://www.readbyqxmd.com/read/24045160/epithelioid-hemangioma-of-the-spine-a-case-series-of-six-patients-and-review-of-the-literature
#14
REVIEW
Bilal Boyaci, Francis J Hornicek, G Petur Nielsen, Thomas F DeLaney, Frank X Pedlow, Frederick L Mansfield, Charles S Carrier, Jurgen Harms, Joseph H Schwab
BACKGROUND CONTEXT: Epithelioid hemangioma (EH) of bone is a benign vascular tumor that can be locally aggressive. It rarely arises in the spine, and the optimum management of EH of the vertebrae is not well delineated. PURPOSE: The report describes our experience treating six patients with EH of the spine in an effort to document the treatment of the rare spinal presentation. STUDY DESIGN: This study is designed as a retrospective cohort study...
December 2013: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/24032430/patients-with-chronic-lymphocytic-leukaemia-and-clonal-deletion-of-both-17p13-1-and-11q22-3-have-a-very-poor-prognosis
#15
COMPARATIVE STUDY
Patricia T Greipp, Stephanie A Smoley, David S Viswanatha, Lori S Frederick, Kari G Rabe, Ruchi G Sharma, Susan L Slager, Daniel L Van Dyke, Tait D Shanafelt, Renee C Tschumper, Clive S Zent
Detection of a 17p13.1 deletion (loss of TP53) or 11q22.3 deletion (loss of ATM), by fluorescence in situ hybridization (FISH), in chronic lymphocytic leukaemia (CLL) patients is associated with a poorer prognosis. Because TP53 and ATM are integral to the TP53 pathway, we hypothesized that 17p13.1- (17p-) and 11q22.3- (11q-) occurring in the same cell (clonal 17p-/11q-) would confer a worse prognosis than either 17p- or 11q-. We studied 2184 CLL patients with FISH (1995-2012) for the first occurrence of 17p-, 11q-, or clonal 17p-/11q-...
November 2013: British Journal of Haematology
https://www.readbyqxmd.com/read/23355489/ataxia-telangiectasia-mutated-atm-is-dispensable-for-endonuclease-i-scei-induced-homologous-recombination-in-mouse-embryonic-stem-cells
#16
Emilie Rass, Gurushankar Chandramouly, Shan Zha, Frederick W Alt, Anyong Xie
Ataxia telangiectasia mutated (ATM) is activated upon DNA double strand breaks (DSBs) and phosphorylates numerous DSB response proteins, including histone H2AX on serine 139 (Ser-139) to form γ-H2AX. Through interaction with MDC1, γ-H2AX promotes DSB repair by homologous recombination (HR). H2AX Ser-139 can also be phosphorylated by DNA-dependent protein kinase catalytic subunit and ataxia telangiectasia- and Rad3-related kinase. Thus, we tested whether ATM functions in HR, particularly that controlled by γ-H2AX, by comparing HR occurring at the euchromatic ROSA26 locus between mouse embryonic stem cells lacking either ATM, H2AX, or both...
March 8, 2013: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/23345432/functional-redundancy-between-the-xlf-and-dna-pkcs-dna-repair-factors-in-v-d-j-recombination-and-nonhomologous-dna-end-joining
#17
Valentyn Oksenych, Vipul Kumar, Xiangyu Liu, Chunguang Guo, Bjoern Schwer, Shan Zha, Frederick W Alt
Classical nonhomologous end joining (C-NHEJ) is a major mammalian DNA double-strand break (DSB) repair pathway that is required for assembly of antigen receptor variable region gene segments by V(D)J recombination. Recombination activating gene endonuclease initiates V(D)J recombination by generating DSBs between two V(D)J coding gene segments and flanking recombination signal sequences (RS), with the two coding ends and two RS ends joined by C-NHEJ to form coding joins and signal joins, respectively. During C-NHEJ, recombination activating gene factor generates two coding ends as covalently sealed hairpins and RS ends as blunt 5'-phosphorylated DSBs...
February 5, 2013: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/22985621/apigenin-induces-dna-damage-through-the-pkc%C3%AE-dependent-activation-of-atm-and-h2ax-causing-down-regulation-of-genes-involved-in-cell-cycle-control-and-dna-repair
#18
Daniel Arango, Arti Parihar, Frederick A Villamena, Liwen Wang, Michael A Freitas, Erich Grotewold, Andrea I Doseff
Apigenin, an abundant plant flavonoid, exhibits anti-proliferative and anti-carcinogenic activities through mechanisms yet not fully defined. In the present study, we show that the treatment of leukemia cells with apigenin resulted in the induction of DNA damage preceding the activation of the apoptotic program. Apigenin-induced DNA damage was mediated by p38 and protein kinase C-delta (PKCδ), yet was independent of reactive oxygen species or caspase activity. Treatment of monocytic leukemia cells with apigenin induced the phosphorylation of the ataxia-telangiectasia mutated (ATM) kinase and histone H2AX, two key regulators of the DNA damage response, without affecting the ataxia-telangiectasia mutated and Rad-3-related (ATR) kinase...
December 15, 2012: Biochemical Pharmacology
https://www.readbyqxmd.com/read/22689803/radiation-therapy-and-adjuvant-chemotherapy-in-a-patient-with-a-malignant-glioneuronal-tumor-and-underlying-ataxia-telangiectasia-a-case-report-and-review-of-the-literature
#19
Mariko D DeWire, Chris Beltran, Frederick A Boop, Kathleen J Helton, David W Ellison, Peter J McKinnon, Amar Gajjar, Atmaram S Pai Panandiker
No abstract text is available yet for this article.
January 1, 2013: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/22433430/administration-of-vincristine-in-a-patient-with-machado-joseph-disease
#20
Anna Colpo, Frederick H Wilson, Valentina Nardi, Ephraim Hochberg
Chemotherapy-induced peripheral neurotoxicity is a major problem because it represents the dose-limiting side effect of a significant number of antineoplastic drugs, such as vinca alkaloids. Hereditary neuropathies usually predispose to severe vincristine neurotoxicity. Here, we report the case of a 56-year-old man with Machado-Joseph disease, also known as spinocerebellar ataxia type 3, treated with a vinca alkaloid without exacerbation of neurological symptoms.
2012: Oncology
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