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Christopher Thompson

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https://www.readbyqxmd.com/read/29679706/an-elemental-impurities-excipient-database-a-viable-tool-for-ich-q3d-drug-product-risk-assessment
#1
Ruth Boetzel, Agnieszka Ceszlak, Christopher Day, Patrick Drumm, Joan Gil Bejar, John Glennon, Laurence Harris, Crina I Heghes, Radu Horga, Peter L Jacobs, Wilfried J T M Keurentjes, Fiona King, Carlos W Lee, Nancy Lewen, Carol A Marchant, Frans A Maris, William Nye, Samuel Powell, Helmut Rockstroh, Laura Rutter, Mark Schweitzer, Elaine Shannon, Lance Smallshaw, Andrew Teasdale, Sarah Thompson, David Wilkinson
To support the practical implementation of the ICH Q3D guideline, which describes a risk-based approach to the control of elemental impurities in drug products, a consortium of pharmaceutical companies has established a database to collate the results of analytical studies of the levels of elemental impurities within pharmaceutical excipients. This database currently includes the results of 26723 elemental determinations for 201 excipients and represents the largest known, and still rapidly expanding, collection of data of this type...
April 18, 2018: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29678867/effect-of-the-duodenal-jejunal-bypass-liner-on-glycemic-control-in-patients-with-type-2-diabetes-with-obesity-a-meta-analysis-with-secondary-analysis-on-weight-loss-and-hormonal-changes
#2
REVIEW
Pichamol Jirapinyo, Andrea V Haas, Christopher C Thompson
OBJECTIVE: Duodenal-jejunal bypass liner (DJBL) is an endoscopic device that may mimic small bowel mechanisms of Roux-en-Y gastric bypass (RYGB). Previous studies have demonstrated the efficacy of DJBL at inducing weight loss. We assessed the effect of DJBL on glycemic control in patients with type 2 diabetes (T2D) with obesity. RESEARCH DESIGN AND METHODS: Data sources included MEDLINE, EMBASE, and Web of Science through 1 July 2017. Included were published studies that assessed DJBL outcomes in obese T2D patients...
May 2018: Diabetes Care
https://www.readbyqxmd.com/read/29672309/a-web-based-education-program-for-colorectal-lesion-diagnosis-with-narrow-band-imaging-classification
#3
Hiroyuki Aihara, Nitin Kumar, Christopher C Thompson
BACKGROUND: An education system for narrow band imaging (NBI) interpretation requires sufficient exposure to key features. However, access to didactic lectures by experienced teachers is limited in the United States. AIM: To develop and assess the effectiveness of a colorectal lesion identification tutorial. METHODS: In the image analysis pretest, subjects including 9 experts and 8 trainees interpreted 50 white light (WL) and 50 NBI images of colorectal lesions...
April 19, 2018: Digestion
https://www.readbyqxmd.com/read/29668116/a-bis-triazacyclononane-tris-pyridyl-n9-azacryptand-beer-can-receptor-for-complexation-of-alkali-metal-and-lead-ii-cations
#4
Asha Brown, Thanthapatra Bunchuay, Christopher Crane, Nicholas White, Amber Thompson, Paul D Beer
A new bis-triazacyclononane tris-pyridyl N9-azacryptand ligand is synthesised via a convenient one-pot [2 + 3] condensation reaction between triazacyclononane and 2,6-bis(bromomethyl) pyridine in the presence of M2CO3 (M = Na, K). The proton, lithium, sodium, potassium and lead(II) complexes of the ligand are characterised in the solid state. A preliminary solution-phase competition experiment indicates that the cryptand ligand preferentially binds lead(II) in the presence of sodium, calcium, potassium and zinc cations in methanol solution...
April 18, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29662167/sequencing-of-prostate-cancers-identifies-new-cancer-genes-routes-of-progression-and-drug-targets
#5
David C Wedge, Gunes Gundem, Thomas Mitchell, Dan J Woodcock, Inigo Martincorena, Mohammed Ghori, Jorge Zamora, Adam Butler, Hayley Whitaker, Zsofia Kote-Jarai, Ludmil B Alexandrov, Peter Van Loo, Charlie E Massie, Stefan Dentro, Anne Y Warren, Clare Verrill, Dan M Berney, Nening Dennis, Sue Merson, Steve Hawkins, William Howat, Yong-Jie Lu, Adam Lambert, Jonathan Kay, Barbara Kremeyer, Katalin Karaszi, Hayley Luxton, Niedzica Camacho, Luke Marsden, Sandra Edwards, Lucy Matthews, Valeria Bo, Daniel Leongamornlert, Stuart McLaren, Anthony Ng, Yongwei Yu, Hongwei Zhang, Tokhir Dadaev, Sarah Thomas, Douglas F Easton, Mahbubl Ahmed, Elizabeth Bancroft, Cyril Fisher, Naomi Livni, David Nicol, Simon Tavaré, Pelvender Gill, Christopher Greenman, Vincent Khoo, Nicholas Van As, Pardeep Kumar, Christopher Ogden, Declan Cahill, Alan Thompson, Erik Mayer, Edward Rowe, Tim Dudderidge, Vincent Gnanapragasam, Nimish C Shah, Keiran Raine, David Jones, Andrew Menzies, Lucy Stebbings, Jon Teague, Steven Hazell, Cathy Corbishley, Johann de Bono, Gerhardt Attard, William Isaacs, Tapio Visakorpi, Michael Fraser, Paul C Boutros, Robert G Bristow, Paul Workman, Chris Sander, Freddie C Hamdy, Andrew Futreal, Ultan McDermott, Bissan Al-Lazikani, Andrew G Lynch, G Steven Bova, Christopher S Foster, Daniel S Brewer, David E Neal, Colin S Cooper, Rosalind A Eeles
Prostate cancer represents a substantial clinical challenge because it is difficult to predict outcome and advanced disease is often fatal. We sequenced the whole genomes of 112 primary and metastatic prostate cancer samples. From joint analysis of these cancers with those from previous studies (930 cancers in total), we found evidence for 22 previously unidentified putative driver genes harboring coding mutations, as well as evidence for NEAT1 and FOXA1 acting as drivers through noncoding mutations. Through the temporal dissection of aberrations, we identified driver mutations specifically associated with steps in the progression of prostate cancer, establishing, for example, loss of CHD1 and BRCA2 as early events in cancer development of ETS fusion-negative cancers...
April 16, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29658834/alterations-in-thyroid-hormone-levels-following-growth-hormone-replacement-exert-complex-biological-effects
#6
Nigel Glynn, Helena Kenny, Tarik Salim, David J Halsall, Diarmuid Smith, Tommy Kyaw Tun, John H McDermott, William Tormey, Christopher J Thompson, Brendan McAdam, Donal O' Gorman, Amar Agha
OBJECTIVE: Alterations in the thyroid axis are frequently observed following growth hormone (GH) replacement, but uncertainty exists regarding their clinical significance. We aimed to compare fluctuations in circulating thyroid hormone levels, induced by GH, to changes in sensitive biological markers of thyroid hormone action. METHODS: This was a prospective observational clinical study. Twenty hypopituitary men were studied before and after GH replacement. Serum thyroid-stimulating hormone (TSH), thyroid hormones, and insulin-like growth factor 1 were measured...
April 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29656535/uterine-and-eggshell-modifications-associated-with-the-evolution-of-viviparity-in-south-american-water-snakes-helicops-spp
#7
Henrique B Braz, Selma M Almeida-Santos, Christopher R Murphy, Michael B Thompson
The evolution of viviparity requires eggshell thinning to bring together the maternal uterus and extraembryonic membranes to form placentae for physiological exchanges. Eggshell thinning likely involves reduced activity of the uterine glands that secrete it. We tested these hypotheses by comparing the uterine and eggshell structure and histochemistry among oviparous and viviparous water snakes (Helicops) using phylogenetic methods. Eggshell thinning occurred convergently in all three origins of viviparity in Helicops and was accomplished by the loss of the mineral layer and thinning of the shell membrane...
April 14, 2018: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/29655537/ambulatory-extracorporeal-membrane-oxygenation-as-a-bridge-to-cardiac-transplant-a-step-in-the-right-direction
#8
EDITORIAL
Harold M Burkhart, Jess L Thompson, Christopher E Mascio
No abstract text is available yet for this article.
March 26, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29649959/whole-brain-magnetic-resonance-spectroscopic-determinants-of-functional-outcomes-in-pediatric-moderate-severe-traumatic-brain-injury
#9
Talin Babikian, Jeffry R Alger, Monica U Ellis-Blied, Christopher C Giza, Emily Dennis, Alexander Olsen, Richard Mink, Christopher Babbitt, Jeffrey Johnson, Paul Thompson, Robert F Asarnow
Diffuse axonal injury contributes to the long-term functional morbidity observed following pediatric moderate/severe traumatic brain injury (msTBI). Whole-Brain Proton Magnetic Resonance Echo-Planar Spectroscopic Imaging was used to measure the neurometabolite levels in the brain to delineate the course of disruption/repair during the first year post msTBI. The association between metabolite biomarkers and functional measures (cognitive functioning and CC function assessed by interhemispheric transfer time (IHTT) using an Event Related Potential paradigm) was also explored...
April 13, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29649027/pain-and-its-long-term-interference-of-daily-life-after-critical-illness
#10
Christina J Hayhurst, Jim C Jackson, Kristin R Archer, Jennifer L Thompson, Rameela Chandrasekhar, Christopher G Hughes
BACKGROUND: Persistent pain likely interferes with quality of life in survivors of critical illness, but data are limited on its prevalence and risk factors. We sought to determine the prevalence of persistent pain after critical illness and its interference with daily life. Additionally, we sought to determine if intensive care unit (ICU) opioid exposure is a risk factor for its development. METHODS: In a cohort of adult medical and surgical ICU survivors, we used the brief pain inventory (BPI) to assess pain intensity and pain interference of daily life at 3 and 12 months after hospital discharge...
April 11, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29643357/release-of-staphylococcus-aureus-extracellular-vesicles-and-their-application-as-a-vaccine-platform
#11
Xiaogang Wang, Christopher D Thompson, Christopher Weidenmaier, Jean C Lee
Secretion of extracellular vesicles (EVs), a process common to eukaryotes, archae, and bacteria, represents a secretory pathway that allows cell-free intercellular communication. Microbial EVs package diverse proteins and influence the host-pathogen interaction, but the mechanisms underlying EV production in Gram-positive bacteria are poorly understood. Here we show that EVs purified from community-associated methicillin-resistant Staphylococcus aureus package cytosolic, surface, and secreted proteins, including cytolysins...
April 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29606593/a-mechanism-of-calmodulin-modulation-of-the-human-cardiac-sodium-channel
#12
Christopher N Johnson, Franck Potet, Matthew K Thompson, Brett M Kroncke, Andrew M Glazer, Markus W Voehler, Bjorn C Knollmann, Alfred L George, Walter J Chazin
The function of the human cardiac sodium channel (NaV 1.5) is modulated by the Ca2+ sensor calmodulin (CaM), but the underlying mechanism(s) are controversial and poorly defined. CaM has been reported to bind in a Ca2+ -dependent manner to two sites in the intracellular loop that is critical for inactivation of NaV 1.5 (inactivation gate [IG]). The affinity of CaM for the complete IG was significantly stronger than that of fragments that lacked both complete binding sites. Structural analysis by nuclear magnetic resonance, crystallographic, and scattering approaches revealed that CaM simultaneously engages both IG sites using an extended configuration...
March 28, 2018: Structure
https://www.readbyqxmd.com/read/29602790/retrospective-natural-history-of-thymidine-kinase-2-deficiency
#13
Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE: To perform a retrospective natural history study of a large cohort of patients with TK2 deficiency. METHODS: The study was conducted by 42 investigators across 31 academic medical centres...
March 30, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29601086/scn1a-variants-associated-with-sudden-infant-death-syndrome
#14
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Poduri
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS...
April 2018: Epilepsia
https://www.readbyqxmd.com/read/29598923/prognosis-for-patients-with-amyotrophic-lateral-sclerosis-development-and-validation-of-a-personalised-prediction-model
#15
Henk-Jan Westeneng, Thomas P A Debray, Anne E Visser, Ruben P A van Eijk, James P K Rooney, Andrea Calvo, Sarah Martin, Christopher J McDermott, Alexander G Thompson, Susana Pinto, Xenia Kobeleva, Angela Rosenbohm, Beatrice Stubendorff, Helma Sommer, Bas M Middelkoop, Annelot M Dekker, Joke J F A van Vugt, Wouter van Rheenen, Alice Vajda, Mark Heverin, Mbombe Kazoka, Hannah Hollinger, Marta Gromicho, Sonja Körner, Thomas M Ringer, Annekathrin Rödiger, Anne Gunkel, Christopher E Shaw, Annelien L Bredenoord, Michael A van Es, Philippe Corcia, Philippe Couratier, Markus Weber, Julian Grosskreutz, Albert C Ludolph, Susanne Petri, Mamede de Carvalho, Philip Van Damme, Kevin Talbot, Martin R Turner, Pamela J Shaw, Ammar Al-Chalabi, Adriano Chiò, Orla Hardiman, Karel G M Moons, Jan H Veldink, Leonard H van den Berg
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor neuron disease with a variable natural history. There are no accurate models that predict the disease course and outcomes, which complicates risk assessment and counselling for individual patients, stratification of patients for trials, and timing of interventions. We therefore aimed to develop and validate a model for predicting a composite survival endpoint for individual patients with ALS. METHODS: We obtained data for patients from 14 specialised ALS centres (each one designated as a cohort) in Belgium, France, the Netherlands, Germany, Ireland, Italy, Portugal, Switzerland, and the UK...
March 26, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29596484/first-quantification-of-subtidal-community-structure-at-tristan-da-cunha-islands-in-the-remote-south-atlantic-from-kelp-forests-to-the-deep-sea
#16
Jennifer E Caselle, Scott L Hamilton, Kathryn Davis, Christopher D H Thompson, Alan Turchik, Ryan Jenkinson, Doug Simpson, Enric Sala
Tristan da Cunha Islands, an archipelago of four rocky volcanic islands situated in the South Atlantic Ocean and part of the United Kingdom Overseas Territories (UKOTs), present a rare example of a relatively unimpacted temperate marine ecosystem. We conducted the first quantitative surveys of nearshore kelp forests, offshore pelagic waters and deep sea habitats. Kelp forests had very low biodiversity and species richness, but high biomass and abundance of those species present. Spatial variation in assemblage structure for both nearshore fish and invertebrates/algae was greatest between the three northern islands and the southern island of Gough, where sea temperatures were on average 3-4o colder...
2018: PloS One
https://www.readbyqxmd.com/read/29596408/publisher-correction-functional-characterization-of-a-multi-cancer-risk-locus-on-chr5p15-33-reveals-regulation-of-tert-by-znf148
#17
Jun Fang, Jinping Jia, Matthew Makowski, Mai Xu, Zhaoming Wang, Tongwu Zhang, Jason W Hoskins, Jiyeon Choi, Younghun Han, Mingfeng Zhang, Janelle Thomas, Michael Kovacs, Irene Collins, Marta Dzyadyk, Abbey Thompson, Maura O'Neill, Sudipto Das, Qi Lan, Roelof Koster, Rachael S Stolzenberg-Solomon, Peter Kraft, Brian M Wolpin, Pascal W T C Jansen, Sara Olson, Katherine A McGlynn, Peter A Kanetsky, Nilanjan Chatterjee, Jennifer H Barrett, Alison M Dunning, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Thorkell Andresson, Gloria M Petersen, Christopher I Amos, Mark M Iles, Katherine L Nathanson, Maria Teresa Landi, Michiel Vermeulen, Kevin M Brown, Laufey T Amundadottir
This corrects the article DOI: 10.1038/ncomms15034.
March 5, 2018: Nature Communications
https://www.readbyqxmd.com/read/29584718/rapid-evolution-of-a-voltage-gated-sodium-channel-gene-in-a-lineage-of-electric-fish-leads-to-a-persistent-sodium-current
#18
Ammon Thompson, Daniel T Infield, Adam R Smith, G Troy Smith, Christopher A Ahern, Harold H Zakon
Most weakly electric fish navigate and communicate by sensing electric signals generated by their muscle-derived electric organs. Adults of one lineage (Apteronotidae), which discharge their electric organs in excess of 1 kHz, instead have an electric organ derived from the axons of specialized spinal neurons (electromotorneurons [EMNs]). EMNs fire spontaneously and are the fastest-firing neurons known. This biophysically extreme phenotype depends upon a persistent sodium current, the molecular underpinnings of which remain unknown...
March 2018: PLoS Biology
https://www.readbyqxmd.com/read/29567111/direct-evidence-of-impaired-neuronal-na-k-atpase-pump-function-in-alternating-hemiplegia-of-childhood
#19
Christine Q Simmons, Christopher H Thompson, Bryan E Cawthon, Grant Westlake, Kathryn J Swoboda, Evangelos Kiskinis, Kevin C Ess, Alfred L George
Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological phenotypes. Most AHC cases are explained by de novo heterozygous ATP1A3 mutations, but the fundamental molecular and cellular consequences of these mutations in human neurons are not known. In this study, we investigated the electrophysiological properties of neurons generated from AHC patient-specific induced pluripotent stem cells (iPSCs) to ascertain functional disturbances underlying this neurological disease...
March 19, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29566793/genome-wide-analyses-identify-kif5a-as-a-novel-als-gene
#20
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle, Alberto M Rivera, Wouter van Rheenen, Natalie A Murphy, Joke J F A van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Shankaracharya, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L Conforti, Giuseppe Borghero, Sonia Messina, Isabella L Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O Logullo, Sandra D'Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B Goldstein, Aaron D Gitler, Tim Harris, Richard M Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C Zody, Julia Kaye, Steven Finkbeiner, Stacia K Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N Svendsen, Leslie M Thompson, Jennifer E Van Eyk, James D Berry, Timothy M Miller, Stephen J Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W Orrell, Katie C Sidle, Andrea Malaspina, John Hardy, Andrew B Singleton, Janel O Johnson, Sampath Arepalli, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L M A Ten Asbroek, José Luis Muñoz-Blanco, Dena G Hernandez, Jinhui Ding, J Raphael Gibbs, Sonja W Scholz, Mary Kay Floeter, Roy H Campbell, Francesco Landi, Robert Bowser, Stefan M Pulst, John M Ravits, Daniel J L MacGowan, Janine Kirby, Erik P Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L Dunckley, Christopher B Brady, Neil W Kowall, Juan C Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H Baloh, Tim M Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L McLaughlin, Michael A Van Es, Markus Weber, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E Morrison, A Nazli Basak, Jesús S Mora, Vivian E Drory, Pamela J Shaw, Martin R Turner, Kevin Talbot, Orla Hardiman, Kelly L Williams, Jennifer A Fifita, Garth A Nicholson, Ian P Blair, Guy A Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W Ostrow, Nicholas J Maragakis, Jeffrey D Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A Goutman, Eva L Feldman, Summer B Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, William Camu, John Q Trojanowski, Vivianna M Van Deerlin, Robert H Brown, Leonard H van den Berg, Jan H Veldink, Matthew B Harms, Jonathan D Glass, David J Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E Shaw, Bryan J Traynor, John E Landers
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2)...
March 21, 2018: Neuron
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