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Select item 107667241.

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease

Ana Rita Agra Almeida Quadros, Zhaozhi Li, Xue Wang, I. Sandra Ndayambaje, Sandeep Aryal, Nandini Ramesh, Matthew Nolan, Rojashree Jayakumar, Yi Han, Hannah Stillman, Corey Aguilar, Hayden J. Wheeler, Theresa Connors, Jone Lopez-Erauskin, Michael W. Baughn, Ze’ev Melamed, Melinda S. Beccari, Laura Olmedo Martínez, Michael Canori, Chao-Zong Lee, Laura Moran, Isabelle Draper, Alan S. Kopin, Derek H. Oakley, Dennis W. Dickson, Don W. Cleveland, Bradley T. Hyman, Sudeshna Das, Nilüfer Ertekin-Taner, Clotilde Lagier-Tourenne

Acta Neuropathol. 2024; 147(1): 9. Published online 2024 Jan 4. doi: 10.1007/s00401-023-02655-0

PMCID:: PMC10766724

Abstract Article PDF–8.2M

Select item 106051282.

Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline–Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment

Ru-Huei Fu, Hui-Jye Chen, Syuan-Yu Hong

Cells. 2023 Oct; 12(20): 2476. Published online 2023 Oct 18. doi: 10.3390/cells12202476

PMCID:: PMC10605128

Abstract Article PDF–12M

Select item 89067973.

Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1

Youngki You, Sachin Katti, Binhan Yu, Tatyana I. Igumenova, Joydip Das

Biochemistry. Author manuscript; available in PMC 2022 Apr 27.

Published in final edited form as: Biochemistry. 2021 Apr 27; 60(16): 1286–1298. Published online 2021 Apr 5. doi: 10.1021/acs.biochem.1c00165

PMCID:: PMC8906797

Abstract Article PDF–2.4M

Select item 88910204.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna-Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C. Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, NYGC ALS Consortium, Jia Newcombe, Emil K. Gustavsson, Sahba Seddighi, Joel F. Reyes, Steven L. Coon, Daniel Ramos, Giampietro Schiavo, Elizabeth M. C. Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward, Pietro Fratta

Nature. 2022; 603(7899): 131–137. Published online 2022 Feb 23. doi: 10.1038/s41586-022-04436-3

Correction in:: Nature. 2024; 631(8020): E7.

PMCID:: PMC8891020

Abstract Article PDF–12M

Select item 88910195.

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

X. Rosa Ma, Mercedes Prudencio, Yuka Koike, Sarat C. Vatsavayai, Garam Kim, Fred Harbinski, Adam Briner, Caitlin M. Rodriguez, Caiwei Guo, Tetsuya Akiyama, H. Broder Schmidt, Beryl B. Cummings, David W. Wyatt, Katherine Kurylo, Georgiana Miller, Shila Mekhoubad, Nathan Sallee, Gemechu Mekonnen, Laura Ganser, Jack D. Rubien, Karen Jansen-West, Casey N. Cook, Sarah Pickles, Björn Oskarsson, Neill R. Graff-Radford, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Dennis W. Dickson, James Shorter, Sua Myong, Eric M. Green, William W. Seeley, Leonard Petrucelli, Aaron D. Gitler

Nature. 2022; 603(7899): 124–130. Published online 2022 Feb 23. doi: 10.1038/s41586-022-04424-7

PMCID:: PMC8891019

Abstract Article PDF–13M

Select item 81650306.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 75406077.

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Harold H. G. Tan, Henk‐Jan Westeneng, Hannelore K. van der Burgh, Michael A. van Es, Leonhard A. Bakker, Kevin van Veenhuijzen, Kristel R. van Eijk, Ruben P. A. van Eijk, Jan H. Veldink, Leonard H. van den Berg

Ann Neurol. 2020 Oct; 88(4): 796–806. Published online 2020 Jul 20. doi: 10.1002/ana.25841

PMCID:: PMC7540607

Abstract Article PDF–510K

Select item 67781378.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 62517559.

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis

Katerina Placek, G. Michael Baer, Lauren Elman, Leo McCluskey, Laura Hennessy, Pilar M. Ferraro, Edward B. Lee, Virginia M.-Y. Lee, John Q. Trojanowski, Vivianna M. Van Deerlin, Murray Grossman, David J Irwin, Corey T. McMillan

Neurobiol Aging. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Neurobiol Aging. 2019 Jan; 73: 190–199. Published online 2018 Sep 27. doi: 10.1016/j.neurobiolaging.2018.09.031

PMCID:: PMC6251755

Abstract Article PDF–602K

Select item 533074010.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Noa Lipstein, Nanda M. Verhoeven-Duif, Francesco E. Michelassi, Nathaniel Calloway, Peter M. van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M. van Haelst, Ron van Empelen, Inge Cuppen, Heleen C. van Teeseling, Annemieke M.V. Evelein, Jacob A. Vorstman, Sven Thoms, Olaf Jahn, Karen J. Duran, Glen R. Monroe, Timothy A. Ryan, Holger Taschenberger, Jeremy S. Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J. Jans, Nils Brose

J Clin Invest. 2017 Mar 1; 127(3): 1005–1018. Published online 2017 Feb 13. doi: 10.1172/JCI90259

PMCID:: PMC5330740

Abstract Article PDF–1.0M

Select item 512528511.

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

Benjamin Gaastra, Aleksey Shatunov, Sara Pulit, Ashley R. Jones, William Sproviero, Alexandra Gillett, Zhongbo Chen, Janine Kirby, Isabella Fogh, John F. Powell, P. Nigel Leigh, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Leonard H. van den Berg, Jan H. Veldink, Cathryn M. Lewis, Ammar Al-Chalabi

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Nov 16; 17(7-8): 593–599. Published online 2016 Sep 1. doi: 10.1080/21678421.2016.1213852

PMCID:: PMC5125285

Abstract Article PDF–468K

Select item 461025712.

Systematic VCP-UBXD Adaptor Network Proteomics Identifies a Role for UBXN10 in Regulating Ciliogenesis

Malavika Raman, Mikhail Sergeev, Maija Garnaas, John R. Lydeard, Edward L. Huttlin, Wolfram Goessling, Jagesh V. Shah, J. Wade Harper

Nat Cell Biol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Nat Cell Biol. 2015 Oct; 17(10): 1356–1369. Published online 2015 Sep 21. doi: 10.1038/ncb3238

Correction in:: Nat Cell Biol. 2016 Mar; 18(3): 347.

PMCID:: PMC4610257

Abstract Article PDF–4.5M

Select item 413723113.

C9orf72 and UNC13A are shared risk loci for ALS and FTD: a genome-wide meta-analysis

Frank P. Diekstra, Vivianna M. Van Deerlin, John C. van Swieten, Ammar Al-Chalabi, Albert C. Ludolph, Jochen H. Weishaupt, Orla Hardiman, John E. Landers, Robert H. Brown, Jr., Michael A. van Es, R. Jeroen Pasterkamp, Max Koppers, Peter M. Andersen, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Philip van Damme, Judith Melki, Vincent Meininger, Aleksey Shatunov, Christopher E. Shaw, P. Nigel Leigh, Pamela J. Shaw, Karen E. Morrison, Isabella Fogh, Adriano Chiò, Bryan J. Traynor, David Czell, Markus Weber, Peter Heutink, Paul I. W. de Bakker, Vincenzo Silani, Wim Robberecht, Leonard H. van den Berg, Jan H. Veldink

Ann Neurol. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Ann Neurol. 2014 Jul; 76(1): 120–133. Published online 2014 Jun 27. doi: 10.1002/ana.24198

PMCID:: PMC4137231

Abstract Article PDF–1.1M

Select item 395980914.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Isabella Fogh, Antonia Ratti, Cinzia Gellera, Kuang Lin, Cinzia Tiloca, Valentina Moskvina, Lucia Corrado, Gianni Sorarù, Cristina Cereda, Stefania Corti, Davide Gentilini, Daniela Calini, Barbara Castellotti, Letizia Mazzini, Giorgia Querin, Stella Gagliardi, Roberto Del Bo, Francesca L. Conforti, Gabriele Siciliano, Maurizio Inghilleri, Francesco Saccà, Paolo Bongioanni, Silvana Penco, Massimo Corbo, Sandro Sorbi, Massimiliano Filosto, Alessandra Ferlini, Anna M. Di Blasio, Stefano Signorini, Aleksey Shatunov, Ashley Jones, Pamela J. Shaw, Karen E. Morrison, Anne E. Farmer, Philip Van Damme, Wim Robberecht, Adriano Chiò, Bryan J. Traynor, Michael Sendtner, Judith Melki, Vincent Meininger, Orla Hardiman, Peter M. Andersen, Nigel P. Leigh, Jonathan D. Glass, Daniel Overste, Frank P. Diekstra, Jan H. Veldink, Michael A. van Es, Christopher E. Shaw, Michael E. Weale, Cathryn M. Lewis, Julie Williams, Robert H. Brown, John E. Landers, Nicola Ticozzi, Mauro Ceroni, Elena Pegoraro, Giacomo P. Comi, Sandra D'Alfonso, Leonard H. van den Berg, Franco Taroni, Ammar Al-Chalabi, John Powell, Vincenzo Silani, the SLAGEN Consortium and Collaborators, Vincenzo Brescia Morra, Alessandro Filla, Filosto Massimo, Angela Marsili, Pensato Viviana, Giorgia Puorro, Vincenzo La Bella, Giancarlo Logroscino, Maria Rosaria Monsurrò, Aldo Quattrone, Isabella Laura Simone, Kreshnik B. Ahmeti, Senda Ajroud-Driss, Jennifer Armstrong, Anne Birve, Hylke M. Blauw, Lucie Bruijn, Wenjie Chen, Mary C. Comeau, Simon Cronin, Gkazi Athina Soraya, Josh D. Grab, Ewout J. Groen, Jonathan L. Haines, Scott Heller, Jie Huang, Wu-Yen Hung, ITALSGEN Consortium, James M. Jaworski, Humaira Khan, Carl D. Langefeld, Miranda C. Marion, Russell L. McLaughlin, Jack W. Miller, Gabriele Mora, Margaret A. Pericak-Vance, Evadnie Rampersaud, Nailah Siddique, Teepu Siddique, Bradley N. Smith, Robert Sufit, Simon Topp, Caroline Vance, Paul van Vught, Yi Yang, J.G. Zheng

Hum Mol Genet. 2014 Apr 15; 23(8): 2220–2231. Published online 2013 Nov 20. doi: 10.1093/hmg/ddt587

PMCID:: PMC3959809

Abstract Article PDF–426K

Select item 383923415.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

The ALSGEN Consortium

Neurobiol Aging. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Neurobiol Aging. 2013 Jan; 34(1): 10.1016/j.neurobiolaging.2012.07.017. Published online 2012 Sep 5. doi: 10.1016/j.neurobiolaging.2012.07.017

PMCID:: PMC3839234

Abstract Article PDF–1.3M

Select item 374347916.

Calcium-dependent Activator Protein for Secretion 1 (CAPS1) Binds to Syntaxin-1 in a Distinct Mode from Munc13-1

Leon Parsaud, Lijun Li, Chang Hun Jung, Seungmee Park, Ner Mu Nar Saw, Sanghyun Park, Moo Yup Kim, Shuzo Sugita

J Biol Chem. 2013 Aug 9; 288(32): 23050–23063. Published online 2013 Jun 25. doi: 10.1074/jbc.M113.494088

PMCID:: PMC3743479

Abstract Article PDF–3.0M

Select item 352258717.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 348340818.

UNC13A influences survival in Italian ALS patients: a population-based study

Adriano Chiò, Gabriele Mora, Gabriella Restagno, Maura Brunetti, Irene Ossola, Marco Barberis, Luigi Ferrucci, Antonio Canosa, Umberto Manera, Cristina Moglia, Giuseppe Fuda, Bryan J. Traynor, Andrea Calvo

Neurobiol Aging. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Neurobiol Aging. 2013 Jan; 34(1): 357.e1–357.e5. Published online 2012 Aug 22. doi: 10.1016/j.neurobiolaging.2012.07.016