Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Towfique, Raj"'
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate
Externí odkaz:
https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0
Autor:
Hadley W. Ressler, Jack Humphrey, Ricardo A. Vialle, Bergan Babrowicz, Shrishtee Kandoi, Towfique Raj, Dennis W. Dickson, Nilüfer Ertekin-Taner, John F. Crary, Kurt Farrell
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-12 (2024)
Abstract Progressive supranuclear palsy (PSP) is a neurodegenerative movement and cognitive disorder characterized by abnormal accumulation of the microtubule-associated protein tau in the brain. Biochemically, inclusions in PSP are enriched for tau
Externí odkaz:
https://doaj.org/article/1fc028332e0f4a12a16271fb90f08338
Autor:
Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, Katia de Paiva Lopes, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, J. Oriol Narcis, Shilpa Dilip Kumar, William Janssen, Allison Sowa, Giacomo P. Comi, Alessio Di Fonzo, John F. Crary, Steven J. Frucht, Towfique Raj
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Background Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson’s disease (PD). GBA participates in both the endo-lysosomal pathway and the immune response, two important mechanisms invol
Externí odkaz:
https://doaj.org/article/dbe17cf7cdea4ab8b6a5e2418d509f7c
Autor:
Kathryn R. Bowles, Derian A. Pugh, Yiyuan Liu, Tulsi Patel, Alan E. Renton, Sara Bandres-Ciga, Ziv Gan-Or, Peter Heutink, Ari Siitonen, Sarah Bertelsen, Jonathan D. Cherry, Celeste M. Karch, Steven J. Frucht, Brian H. Kopell, Inga Peter, Y. J. Park, International Parkinson’s Disease Genomics Consortium (IPDGC), Alexander Charney, Towfique Raj, John F. Crary, A. M. Goate
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-21 (2022)
Abstract Background Parkinson’s disease (PD) is genetically associated with the H1 haplotype of the MAPT 17q.21.31 locus, although the causal gene and variants underlying this association have not been identified. Methods To better understand the g
Externí odkaz:
https://doaj.org/article/dc0f7733fd3c42e08b8f5bd051fbb5cc
Publikováno v:
Neurobiology of Disease, Vol 163, Iss , Pp 105580- (2022)
Genome-Wide Association Studies (GWAS) have elucidated the genetic components of Parkinson's Disease (PD). However, because the vast majority of GWAS association signals fall within non-coding regions, translating these results into an interpretable,
Externí odkaz:
https://doaj.org/article/2b877f6768904191a1ed53ac502c4213
Autor:
Jonathan Li, Ryan G. Lim, Julia A. Kaye, Victoria Dardov, Alyssa N. Coyne, Jie Wu, Pamela Milani, Andrew Cheng, Terri G. Thompson, Loren Ornelas, Aaron Frank, Miriam Adam, Maria G. Banuelos, Malcolm Casale, Veerle Cox, Renan Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey Hayes, Ronald Holewenski, Susan Lei, Alex Lenail, Leandro Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia Wyman, Stephanie Yang, Jennifer E. Van Eyk, Thomas E. Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson, Hemali Phatnani, PhD, Justin Kwan, MD, Dhruv Sareen, PhD, James R. Broach, PhD, Zachary Simmons, MD, Ximena Arcila-Londono, MD, Edward B. Lee, MD, PhD, Vivianna M. Van Deerlin, MD, PhD, Neil A. Shneider, MD, PhD, Ernest Fraenkel, PhD, Lyle W. Ostrow, MD, PhD, Frank Baas, MD, PhD, Noah Zaitlen, PhD, James D. Berry, MD, MPH, Andrea Malaspina, MD, PhD, Pietro Fratta, MD, PhD, Gregory A. Cox, PhD, Leslie M. Thompson, PhD, Steve Finkbeiner, MD, PhD, Efthimios Dardiotis, MD, PhD, Timothy M. Miller, MD, PhD, Siddharthan Chandran, PhD, Suvankar Pal, MD, Eran Hornstein, MD, PhD, Daniel J. MacGowan, MD, Terry Heiman-Patterson, MD, Molly G. Hammell, PhD, Nikolaos.A. Patsopoulos, MD, PhD, Oleg Butovsky, PhD, Joshua Dubnau, PhD, Avindra Nath, MD, Robert Bowser, PhD, Matt Harms, MD, Mary Poss, DVM, PhD, Jennifer Phillips-Cremins, PhD, John Crary, MD, PhD, Nazem Atassi, MD, Dale J. Lange, MD, Darius J. Adams, MD, Leonidas Stefanis, MD, PhD, Marc Gotkine, MD, Robert H. Baloh, MD. PhD, Suma Babu, MBBS, MPH, Towfique Raj, PhD, Sabrina Paganoni, MD, PhD, Ophir Shalem, PhD, Colin Smith, MD, Bin Zhang, PhD, Brent Harris, MD, PhD, Iris Broce, PhD, Vivian Drory, MD, John Ravits, MD, Corey McMillan, PhD, Vilas Menon, PhD, Lani Wu, PhD, Steven Altschuler, PhD
Publikováno v:
iScience, Vol 24, Iss 11, Pp 103221- (2021)
Summary: Neurodegenerative diseases are challenging for systems biology because of the lack of reliable animal models or patient samples at early disease stages. Induced pluripotent stem cells (iPSCs) could address these challenges. We investigated D
Externí odkaz:
https://doaj.org/article/b0aa201abf104ba08a6430dac01837c5
Publikováno v:
iScience, Vol 24, Iss 6, Pp 102550- (2021)
Summary: While several genes and clinical traits have been associated with higher risk of severe coronavirus disease 2019 (COVID-19), how host genetic variants may interact with these parameters and contribute to severe disease is still unclear. Here
Externí odkaz:
https://doaj.org/article/a1141ddbba334585a195e7746d8cbdcf
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
GWAS have identified over 41 susceptibility loci for Parkinson’s disease (PD). Here, the authors integrate PD GWAS summary statistics with transcriptome data from monocytes and DLFPC tissue in a TWAS approach and find 66 significant associations wi
Externí odkaz:
https://doaj.org/article/afa344da02c74e3c8e6b3f277a5732e4
Autor:
Satesh Ramdhani, Elisa Navarro, Evan Udine, Anastasia G Efthymiou, Brian M Schilder, Madison Parks, Alison Goate, Towfique Raj
Publikováno v:
PLoS Genetics, Vol 16, Iss 2, p e1008549 (2020)
Recent human genetic studies suggest that cells of the innate immune system have a primary role in the pathogenesis of neurodegenerative diseases. However, the results from these studies often do not elucidate how the genetic variants affect the biol
Externí odkaz:
https://doaj.org/article/eb27be45a81b461396b3b77f99c2d672
Autor:
Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, Delphine Fagegaltier, Brent T. Harris, Lyle W. Ostrow, Hemali Phatnani, John Ravits, Josh Dubnau, Molly Gale Hammell, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert Baloh, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang
Publikováno v:
Cell Reports, Vol 29, Iss 5, Pp 1164-1177.e5 (2019)
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons. While several pathogenic mutations have been identified, the vast majority of ALS cases have no family history o
Externí odkaz:
https://doaj.org/article/aae3b9d6ae684f00ab702dbeb5c75e19