Full Text Journal Articles by
Author Henry Paulson

Advertisement

Find full text journal articles






Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.

Brian W Kunkle, Michael Schmidt, Hans-Ulrich Klein, Adam C Naj, Kara L Hamilton-Nelson, Eric B Larson, Denis A Evans, Phil L De Jager, Paul K Crane, Joe D Buxbaum, Nilufer Ertekin-Taner, Lisa L Barnes, M Daniele Fallin, Jennifer J Manly, Rodney C P Go, Thomas O Obisesan, M Ilyas Kamboh, David A Bennett, Kathleen S Hall, Alison M Goate, Tatiana M Foroud, Eden R Martin, Li-Sao Wang, Goldie S Byrd, Lindsay A Farrer, Jonathan L Haines, Gerard D Schellenberg, Richard Mayeux, Margaret A Pericak-Vance, Christiane Reitz, , Neill R Graff-Radford, Izri Martinez, Temitope Ayodele, Mark W Logue, Laura B Cantwell, Melissa Jean-Francois, Amanda B Kuzma, L D Adams, Jeffery M Vance, Michael L Cuccaro, Jaeyoon Chung, Jesse Mez, Kathryn L Lunetta, Gyungah R Jun, Oscar L Lopez, Hugh C Hendrie, Eric M Reiman, Neil W Kowall, James B Leverenz, Scott A Small, Allan I Levey, Todd E Golde, Andrew J Saykin, Takiyah D Starks, Marilyn S Albert, Bradley T Hyman, Ronald C Petersen, Mary Sano, Thomas Wisniewski, Robert Vassar, Jeffrey A Kaye, Victor W Henderson, Charles DeCarli, Frank M LaFerla, James B Brewer, Bruce L Miller, Russell H Swerdlow, Linda J Van Eldik, Henry L Paulson, John Q Trojanowski, Helena C Chui, Roger N Rosenberg, Suzanne Craft, Thomas J Grabowski, Sanjay Asthana, John C Morris, Stephen M Strittmatter, Walter A Kukull,

Importance:Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association studies to date have been conducted in non-Hispanic White individuals. In the largest association analyses of Alzheimer disease in African ... Read more >>

JAMA Neurol (JAMA neurology)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain.

Elaine A Liu, Mark L Schultz, Chisaki Mochida, Chan Chung, Henry L Paulson, Andrew P Lieberman,

A critical response to lysosomal membrane permeabilization (LMP) is the clearance of damaged lysosomes through a selective form of macroautophagy known as lysophagy. Although regulators of this process are emerging, whether organ- and cell-specific components contribute to the control of lysophagy remains incompletely understood. Here, we examined LMP and lysophagy ... Read more >>

JCI Insight (JCI insight)
[2020, 5(20):]

Cited: 0 times

View full text PDF listing >>



Advertisement

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Mercedes Prudencio, Hector Garcia-Moreno, Karen R Jansen-West, Rana Hanna Al-Shaikh, Tania F Gendron, Michael G Heckman, Matthew R Spiegel, Yari Carlomagno, Lillian M Daughrity, Yuping Song, Judith A Dunmore, Natalie Byron, Björn Oskarsson, Katharine A Nicholson, Nathan P Staff, Sorina Gorcenco, Andreas Puschmann, João Lemos, Cristina Januário, Mark S LeDoux, Joseph H Friedman, James Polke, Robin Labrum, Vikram Shakkottai, Hayley S McLoughlin, Henry L Paulson, Takuya Konno, Osamu Onodera, Takeshi Ikeuchi, Mari Tada, Akiyoshi Kakita, John D Fryer, Christin Karremo, Inês Gomes, John N Caviness, Mark R Pittelkow, Jan Aasly, Ronald F Pfeiffer, Venka Veerappan, Eric R Eggenberger, William D Freeman, Josephine F Huang, Ryan J Uitti, Klaas J Wierenga, Iris V Marin Collazo, Philip W Tipton, Jay A van Gerpen, Marka van Blitterswijk, Guojun Bu, Zbigniew K Wszolek, Paola Giunti, Leonard Petrucelli,

Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating ... Read more >>

Sci Transl Med (Science translational medicine)
[2020, 12(566):]

Cited: 0 times

View full text PDF listing >>



Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins

Julia Gerson, Hunter Linton, Jiazheng Xing, Alexandra Sutter, Fayth Kakos, Jaimie Ryou, Nyjerus Liggans, Lisa Sharkey, Nathaniel Safren, Henry Paulson, Magdalena Ivanova,

Abstract The brain-expressed ubiquilins, UBQLNs 1, 2 and 4, are highly homologous proteins that participate in multiple aspects of protein homeostasis and are implicated in neurodegenerative diseases. Studies have established that UBQLN2 forms liquid-like condensates and accumulates in pathogenic aggregates, much like other proteins linked to neurodegenerative diseases. However, the ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Antisense Oligonucleotide Therapy Targeted Against ATXN3 Improves Potassium Channel-Mediated Purkinje Neuron Dysfunction in Spinocerebellar Ataxia Type 3.

David D Bushart, Annie J Zalon, Hongjiu Zhang, Logan M Morrison, Yuanfang Guan, Henry L Paulson, Vikram G Shakkottai, Hayley S McLoughlin,

Spinocerebellar ataxia type 3 (SCA3) is the second-most common CAG repeat disease, caused by a glutamine-encoding expansion in the ATXN3 protein. SCA3 is characterized by spinocerebellar degeneration leading to progressive motor incoordination and early death. Previous studies suggest that potassium channel dysfunction underlies early abnormalities in cerebellar cortical Purkinje neuron ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, :]

Cited: 0 times

View full text PDF listing >>



Ubiquilin-2 differentially regulates polyglutamine disease proteins.

Julia E Gerson, Nathaniel Safren, Svetlana Fischer, Ronak Patel, Emily V Crowley, Jacqueline P Welday, Alexandra K Windle, Sami Barmada, Henry L Paulson, Lisa M Sharkey,

Divergent protein context helps explain why polyglutamine expansion diseases differ clinically and pathologically. This heterogeneity may also extend to how polyglutamine disease proteins are handled by cellular pathways of proteostasis. Studies suggest, for example, that the ubiquitin-proteasome shuttle protein Ubiquilin-2 (UBQLN2) selectively interacts with specific polyglutamine disease proteins. Here we ... Read more >>

Hum Mol Genet (Human molecular genetics)
[2020, 29(15):2596-2610]

Cited: 0 times

View full text PDF listing >>



In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3.

Maria do Carmo Costa, Maria Radzwion, Hayley S McLoughlin, Naila S Ashraf, Svetlana Fischer, Vikram G Shakkottai, Patrícia Maciel, Henry L Paulson, Gülin Öz,

BACKGROUND:No treatment exists for the most common dominantly inherited ataxia Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3). Successful evaluation of candidate therapeutics will be facilitated by validated noninvasive biomarkers of disease pathology recapitulated by animal models. OBJECTIVE:We sought to identify shared in vivo neurochemical signatures in two mouse models ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(10):1774-1786]

Cited: 0 times

View full text PDF listing >>



Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity.

Lisa M Sharkey, Stephanie S Sandoval-Pistorius, Shannon J Moore, Julia E Gerson, Robert Komlo, Svetlana Fischer, Keyshla Y Negron-Rios, Emily V Crowley, Francisco Padron, Ronak Patel, Geoffrey G Murphy, Henry L Paulson,

The ubiquitin-binding proteasomal shuttle protein UBQLN2 is implicated in common neurodegenerative disorders due to its accumulation in disease-specific aggregates and, when mutated, directly causes familial frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). Like other proteins linked to FTD/ALS, UBQLN2 undergoes phase separation to form condensates. The relationship of UBQLN2 phase separation and ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2020, 143:105016]

Cited: 0 times

View full text PDF listing >>



Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.

Chen-Ya Yang, Ruo-Yah Lai, Nadia Amokrane, Chi-Ying Lin, Karla P Figueroa, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Liana S Rosenthal, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Michelle S Troche, Sheng-Han Kuo,

BACKGROUND:Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study aims to investigate the prevalence of dysphagia in different disease stages of SCA 1, 2, 3 ... Read more >>

J Neurol Sci (Journal of the neurological sciences)
[2020, 415:116878]

Cited: 0 times

View full text PDF listing >>



The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.

Shi-Rui Gan, Karla P Figueroa, Hao-Ling Xu, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Liana Rosenthal, Tetsuo Ashizawa, Stefan M Pulst, Ning Wang, Sheng-Han Kuo,

BACKGROUND:For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less ... Read more >>

Parkinsonism Relat. Disord. (Parkinsonism & related disorders)
[2020, 72:37-43]

Cited: 1 time

View full text PDF listing >>



Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.

Eric M Reiman, Joseph F Arboleda-Velasquez, Yakeel T Quiroz, Matthew J Huentelman, Thomas G Beach, Richard J Caselli, Yinghua Chen, Yi Su, Amanda J Myers, John Hardy, Jean Paul Vonsattel, Steven G Younkin, David A Bennett, Philip L De Jager, Eric B Larson, Paul K Crane, C Dirk Keene, M Ilyas Kamboh, Julia K Kofler, Linda Duque, John R Gilbert, Harry E Gwirtsman, Joseph D Buxbaum, Dennis W Dickson, Matthew P Frosch, Bernardino F Ghetti, Kathryn L Lunetta, Li-San Wang, Bradley T Hyman, Walter A Kukull, Tatiana Foroud, Jonathan L Haines, Richard P Mayeux, Margaret A Pericak-Vance, Julie A Schneider, John Q Trojanowski, Lindsay A Farrer, Gerard D Schellenberg, Gary W Beecham, Thomas J Montine, Gyungah R Jun, ,

Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):667]

Cited: 3 times

View full text PDF listing >>



Neurologic examination in the elderly.

Navid Seraji-Bzorgzad, Henry Paulson, Judith Heidebrink,

Clinical evaluation of neurologic disorders in the elderly requires seeking a thorough history and performing an age-appropriate neurologic examination with special attention to changes that occur with normal aging. The history should be obtained from the patient as well as collateral sources close to the patient to ensure accuracy and ... Read more >>

Handb Clin Neurol (Handbook of clinical neurology)
[2019, 167:73-88]

Cited: 0 times

View full text PDF listing >>



Comment on Liu et al. Aberrant Expression of FBXO2 Disrupts Glucose Homeostasis Through Ubiquitin-Mediated Degradation of Insulin Receptor in Obese Mice. Diabetes 2017;66:689-698.

Siauyen Wong, Rick F Nelson, Peiran Lu, Henry Paulson, Dingbo Lin,

Diabetes (Diabetes)
[2020, 69(2):e1]

Cited: 0 times

View full text PDF listing >>



Structural Brain Changes in Pre-Clinical FTD MAPT Mutation Carriers.

Clara Domínguez-Vivero, Liwen Wu, Seonjoo Lee, Masood Manoochehri, Sarah Cines, Adam M Brickman, Batool Rizvi, Anthony Chesebro, Yunglin Gazes, Emer Fallon, Timothy Lynch, Judith L Heidebrink, Henry Paulson, Jill S Goldman, Edward Huey, Stephanie Cosentino,

BACKGROUND:Frontotemporal dementia (FTD) is the second most common cause of early-onset neurodegenerative dementia. Several studies have focused on early imaging changes in FTD patients, but once subjects meet full criteria for FTD diagnosis, structural changes are generally widespread. OBJECTIVE:This study aims to determine the earliest structural brain changes in asymptomatic ... Read more >>

J Alzheimers Dis (Journal of Alzheimer's disease : JAD)
[2020, 75(2):595-606]

Cited: 0 times

View full text PDF listing >>



In vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3

Maria do Carmo Costa, Maria Radzwion, Hayley McLoughlin, Naila Ashraf, Svetlana Fischer, Vikram Shakkottai, Patrícia Maciel, Henry Paulson, Gülin Öz,

Abstract Background No treatment exists for the most common dominantly inherited ataxia Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3). Successful evaluation of candidate therapeutics will be facilitated by validated noninvasive biomarkers of aspects of disease pathology recapitulated by animal models. Objective We sought to identify shared neurochemical signatures in ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Caregiver-Reported Barriers to Quality End-of-Life Care in Dementia With Lewy Bodies: A Qualitative Analysis.

Melissa J Armstrong, Slande Alliance, Pamela Corsentino, Susan M Maixner, Henry L Paulson, Angela Taylor,

OBJECTIVE:This study investigated barriers to quality end-of-life (EOL) care in the context of dementia with Lewy bodies (DLB), one of the most common degenerative dementias in the United States. METHODS:The study consisted of telephone interviews with caregivers and family members of individuals who died with DLB in the last 5 ... Read more >>

Am J Hosp Palliat Care (The American journal of hospice & palliative care)
[2020, 37(9):728-737]

Cited: 0 times

View full text PDF listing >>



TASK-SPECIFIC METACOGNITIVE ACCURACY DECLINES ACROSS THE DEMENTIA-ALZHEIMER’S TYPE SPECTRUM.

Annalise M Rahman-Filipiak, Arijit Bhaumik, Bruno Giordani, Henry Paulson, Benjamin M Hampstead,

AbstractSubjective cognitive complaints (SCCs) remain part of the diagnostic criteria for amnestic mild cognitive impairment (aMCI), the prodromal stage of dementia - Alzheimer’s type (DAT), despite weak relationships between self-reported and objectively-measured functioning. Most metacognitive measures focus on ratings of global retrospective memory rating only; greater subtlety in measurement of ... Read more >>

Innov Aging (Innovation in aging)
[2019, 3(Suppl 1):S2-S2]

Cited: 0 times

View full text PDF listing >>



Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein.

Naila S Ashraf, Joanna R Sutton, Yemen Yang, Bedri Ranxhi, Kozeta Libohova, Emily D Shaw, Anna J Barget, Sokol V Todi, Henry L Paulson, Maria do Carmo Costa,

Spinocerebellar Ataxia type 3 (SCA3, also known as Machado-Joseph disease) is a neurodegenerative disorder caused by a CAG repeat expansion encoding an abnormally long polyglutamine (polyQ) tract in the disease protein, ataxin-3 (ATXN3). No preventive treatment is yet available for SCA3. Because SCA3 is likely caused by a toxic gain ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2020, 137:104697]

Cited: 0 times

View full text PDF listing >>



Repeat expansions in leukoencephalopathy.

Henry Paulson,

Ann Neurol (Annals of neurology)
[2019, 86(6):809-811]

Cited: 0 times

View full text PDF listing >>



Pathogenesis of SCA3 and implications for other polyglutamine diseases.

Hayley S McLoughlin, Lauren R Moore, Henry L Paulson,

Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2020, 134:104635]

Cited: 3 times

View full text PDF listing >>



Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Brian W Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C Bis, Vincent Damotte, Adam C Naj, Anne Boland, Maria Vronskaya, Sven J van der Lee, Alexandre Amlie-Wolf, Céline Bellenguez, Aura Frizatti, Vincent Chouraki, Eden R Martin, Kristel Sleegers, Nandini Badarinarayan, Johanna Jakobsdottir, Kara L Hamilton-Nelson, Sonia Moreno-Grau, Robert Olaso, Rachel Raybould, Yuning Chen, Amanda B Kuzma, Mikko Hiltunen, Taniesha Morgan, Shahzad Ahmad, Badri N Vardarajan, Jacques Epelbaum, Per Hoffmann, Merce Boada, Gary W Beecham, Jean-Guillaume Garnier, Denise Harold, Annette L Fitzpatrick, Otto Valladares, Marie-Laure Moutet, Amy Gerrish, Albert V Smith, Liming Qu, Delphine Bacq, Nicola Denning, Xueqiu Jian, Yi Zhao, Maria Del Zompo, Nick C Fox, Seung-Hoan Choi, Ignacio Mateo, Joseph T Hughes, Hieab H Adams, John Malamon, Florentino Sanchez-Garcia, Yogen Patel, Jennifer A Brody, Beth A Dombroski, Maria Candida Deniz Naranjo, Makrina Daniilidou, Gudny Eiriksdottir, Shubhabrata Mukherjee, David Wallon, James Uphill, Thor Aspelund, Laura B Cantwell, Fabienne Garzia, Daniela Galimberti, Edith Hofer, Mariusz Butkiewicz, Bertrand Fin, Elio Scarpini, Chloe Sarnowski, Will S Bush, Stéphane Meslage, Johannes Kornhuber, Charles C White, Yuenjoo Song, Robert C Barber, Sebastiaan Engelborghs, Sabrina Sordon, Dina Voijnovic, Perrie M Adams, Rik Vandenberghe, Manuel Mayhaus, L Adrienne Cupples, Marilyn S Albert, Peter P De Deyn, Wei Gu, Jayanadra J Himali, Duane Beekly, Alessio Squassina, Annette M Hartmann, Adelina Orellana, Deborah Blacker, Eloy Rodriguez-Rodriguez, Simon Lovestone, Melissa E Garcia, Rachelle S Doody, Carmen Munoz-Fernadez, Rebecca Sussams, Honghuang Lin, Thomas J Fairchild, Yolanda A Benito, Clive Holmes, Hata Karamujić-Čomić, Matthew P Frosch, Hakan Thonberg, Wolfgang Maier, Gennady Roshchupkin, Bernardino Ghetti, Vilmantas Giedraitis, Amit Kawalia, Shuo Li, Ryan M Huebinger, Lena Kilander, Susanne Moebus, Isabel Hernández, M Ilyas Kamboh, RoseMarie Brundin, James Turton, Qiong Yang, Mindy J Katz, Letizia Concari, Jenny Lord, Alexa S Beiser, C Dirk Keene, Seppo Helisalmi, Iwona Kloszewska, Walter A Kukull, Anne Maria Koivisto, Aoibhinn Lynch, Lluís Tarraga, Eric B Larson, Annakaisa Haapasalo, Brian Lawlor, Thomas H Mosley, Richard B Lipton, Vincenzo Solfrizzi, Michael Gill, W T Longstreth, Thomas J Montine, Vincenza Frisardi, Monica Diez-Fairen, Fernando Rivadeneira, Ronald C Petersen, Vincent Deramecourt, Ignacio Alvarez, Francesca Salani, Antonio Ciaramella, Eric Boerwinkle, Eric M Reiman, Nathalie Fievet, Jerome I Rotter, Joan S Reisch, Olivier Hanon, Chiara Cupidi, A G Andre Uitterlinden, Donald R Royall, Carole Dufouil, Raffaele Giovanni Maletta, Itziar de Rojas, Mary Sano, Alexis Brice, Roberta Cecchetti, Peter St George-Hyslop, Karen Ritchie, Magda Tsolaki, Debby W Tsuang, Bruno Dubois, David Craig, Chuang-Kuo Wu, Hilkka Soininen, Despoina Avramidou, Roger L Albin, Laura Fratiglioni, Antonia Germanou, Liana G Apostolova, Lina Keller, Maria Koutroumani, Steven E Arnold, Francesco Panza, Olymbia Gkatzima, Sanjay Asthana, Didier Hannequin, Patrice Whitehead, Craig S Atwood, Paolo Caffarra, Harald Hampel, Inés Quintela, Ángel Carracedo, Lars Lannfelt, David C Rubinsztein, Lisa L Barnes, Florence Pasquier, Lutz Frölich, Sandra Barral, Bernadette McGuinness, Thomas G Beach, Janet A Johnston, James T Becker, Peter Passmore, Eileen H Bigio, Jonathan M Schott, Thomas D Bird, Jason D Warren, Bradley F Boeve, Michelle K Lupton, James D Bowen, Petra Proitsi, Adam Boxer, John F Powell, James R Burke, John S K Kauwe, Jeffrey M Burns, Michelangelo Mancuso, Joseph D Buxbaum, Ubaldo Bonuccelli, Nigel J Cairns, Andrew McQuillin, Chuanhai Cao, Gill Livingston, Chris S Carlson, Nicholas J Bass, Cynthia M Carlsson, John Hardy, Regina M Carney, Jose Bras, Minerva M Carrasquillo, Rita Guerreiro, Mariet Allen, Helena C Chui, Elizabeth Fisher, Carlo Masullo, Elizabeth A Crocco, Charles DeCarli, Gina Bisceglio, Malcolm Dick, Li Ma, Ranjan Duara, Neill R Graff-Radford, Denis A Evans, Angela Hodges, Kelley M Faber, Martin Scherer, Kenneth B Fallon, Matthias Riemenschneider, David W Fardo, Reinhard Heun, Martin R Farlow, Heike Kölsch, Steven Ferris, Markus Leber, Tatiana M Foroud, Isabella Heuser, Douglas R Galasko, Ina Giegling, Marla Gearing, Michael Hüll, Daniel H Geschwind, John R Gilbert, John Morris, Robert C Green, Kevin Mayo, John H Growdon, Thomas Feulner, Ronald L Hamilton, Lindy E Harrell, Dmitriy Drichel, Lawrence S Honig, Thomas D Cushion, Matthew J Huentelman, Paul Hollingworth, Christine M Hulette, Bradley T Hyman, Rachel Marshall, Gail P Jarvik, Alun Meggy, Erin Abner, Georgina E Menzies, Lee-Way Jin, Ganna Leonenko, Luis M Real, Gyungah R Jun, Clinton T Baldwin, Detelina Grozeva, Anna Karydas, Giancarlo Russo, Jeffrey A Kaye, Ronald Kim, Frank Jessen, Neil W Kowall, Bruno Vellas, Joel H Kramer, Emma Vardy, Frank M LaFerla, Karl-Heinz Jöckel, James J Lah, Martin Dichgans, James B Leverenz, David Mann, Allan I Levey, Stuart Pickering-Brown, Andrew P Lieberman, Norman Klopp, Kathryn L Lunetta, H-Erich Wichmann, Constantine G Lyketsos, Kevin Morgan, Daniel C Marson, Kristelle Brown, Frank Martiniuk, Christopher Medway, Deborah C Mash, Markus M Nöthen, Eliezer Masliah, Nigel M Hooper, Wayne C McCormick, Antonio Daniele, Susan M McCurry, Anthony Bayer, Andrew N McDavid, John Gallacher, Ann C McKee, Hendrik van den Bussche, Marsel Mesulam, Carol Brayne, Bruce L Miller, Steffi Riedel-Heller, Carol A Miller, Joshua W Miller, Ammar Al-Chalabi, John C Morris, Christopher E Shaw, Amanda J Myers, Jens Wiltfang, Sid O'Bryant, John M Olichney, Victoria Alvarez, Joseph E Parisi, Andrew B Singleton, Henry L Paulson, John Collinge, William R Perry, Simon Mead, Elaine Peskind, David H Cribbs, Martin Rossor, Aimee Pierce, Natalie S Ryan, Wayne W Poon, Benedetta Nacmias, Huntington Potter, Sandro Sorbi, Joseph F Quinn, Eleonora Sacchinelli, Ashok Raj, Gianfranco Spalletta, Murray Raskind, Carlo Caltagirone, Paola Bossù, Maria Donata Orfei, Barry Reisberg, Robert Clarke, Christiane Reitz, A David Smith, John M Ringman, Donald Warden, Erik D Roberson, Gordon Wilcock, Ekaterina Rogaeva, Amalia Cecilia Bruni, Howard J Rosen, Maura Gallo, Roger N Rosenberg, Yoav Ben-Shlomo, Mark A Sager, Patrizia Mecocci, Andrew J Saykin, Pau Pastor, Michael L Cuccaro, Jeffery M Vance, Julie A Schneider, Lori S Schneider, Susan Slifer, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Mitchell Tang, Rudolph E Tanzi, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Yasaman Saba, , , , , Alberto Pilotto, Maria J Bullido, Oliver Peters, Paul K Crane, David Bennett, Paola Bosco, Eliecer Coto, Virginia Boccardi, Phil L De Jager, Alberto Lleo, Nick Warner, Oscar L Lopez, Martin Ingelsson, Panagiotis Deloukas, Carlos Cruchaga, Caroline Graff, Rhian Gwilliam, Myriam Fornage, Alison M Goate, Pascual Sanchez-Juan, Patrick G Kehoe, Najaf Amin, Nilifur Ertekin-Taner, Claudine Berr, Stéphanie Debette, Seth Love, Lenore J Launer, Steven G Younkin, Jean-Francois Dartigues, Chris Corcoran, M Arfan Ikram, Dennis W Dickson, Gael Nicolas, Dominique Campion, JoAnn Tschanz, Helena Schmidt, Hakon Hakonarson, Jordi Clarimon, Ron Munger, Reinhold Schmidt, Lindsay A Farrer, Christine Van Broeckhoven, Michael C O'Donovan, Anita L DeStefano, Lesley Jones, Jonathan L Haines, Jean-Francois Deleuze, Michael J Owen, Vilmundur Gudnason, Richard Mayeux, Valentina Escott-Price, Bruce M Psaty, Alfredo Ramirez, Li-San Wang, Agustin Ruiz, Cornelia M van Duijn, Peter A Holmans, Sudha Seshadri, Julie Williams, Phillippe Amouyel, Gerard D Schellenberg, Jean-Charles Lambert, Margaret A Pericak-Vance,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Nat Genet (Nature genetics)
[2019, 51(9):1423-1424]

Cited: 0 times

View full text PDF listing >>



Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line.

Lauren R Moore, Laura Keller, David D Bushart, Rodrigo G Delatorre, Duojia Li, Hayley S McLoughlin, Maria do Carmo Costa, Vikram G Shakkottai, Gary D Smith, Henry L Paulson,

Spinocerebellar ataxia type 3 (SCA3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra. Here we report the first NIH-approved human embryonic stem cell (hESC) line derived from an embryo harboring the SCA3 mutation. Referred to as SCA3-hESC, this line ... Read more >>

Stem Cell Res (Stem cell research)
[2019, 39:101504]

Cited: 2 times

View full text PDF listing >>



Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia Type 3 disease protein

Naila Ashraf, Joanna Sutton, Yemen Yang, Bedri Ranxhi, Kozeta Libohova, Emily Shaw, Anna Barget, Sokol Todi, Henry Paulson, Maria do Carmo Costa,

Abstract Background Spinocerebellar Ataxia type 3 (SCA3, also known as Machado-Joseph disease) is a neurodegenerative disorder caused by a CAG repeat expansion encoding an abnormally long polyglutamine (polyQ) tract in the disease protein, ataxin-3 (ATXN3). No preventive treatment is yet available for SCA3. Because SCA3 is likely caused by a ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3.

Sean L Johnson, Jessica R Blount, Kozeta Libohova, Bedri Ranxhi, Henry L Paulson, Wei-Ling Tsou, Sokol V Todi,

The most commonly inherited dominant ataxia, Spinocerebellar Ataxia Type 3 (SCA3), is caused by a CAG repeat expansion that encodes an abnormally long polyglutamine (polyQ) repeat in the disease protein ataxin-3, a deubiquitinase. Two major full-length isoforms of ataxin-3 exist, both of which contain the same N-terminal portion and polyQ ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2019, 132:104535]

Cited: 3 times

View full text PDF listing >>



Antisense oligonucleotide therapy rescues aggresome formation in a novel Spinocerebellar Ataxia type 3 human embryonic stem cell line

Lauren Moore, Laura Keller, David Bushart, Rodrigo Delatorre, Duojia Li, Hayley McLoughlin, Maria do Carmo Costa, Vikram Shakkottai, Gary Smith, Henry Paulson,

Abstract Spinocerebellar ataxia type 3 (SCA3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra. Here, we characterize the first NIH-approved human embryonic stem cell (hESC) line derived from an embryo harboring the SCA3 mutation. Referred here as SCA3-hESC, this ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
1.3245 s