ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43 von Stoica, Radu, De Vos, Kurt J., Paillusson, Sébastien, Mueller, Sarah, Sancho, Rosa M., Lau, Kwok-Fai, Vizcay-Barrena, Gema, Lin, Wen-Lang, Xu, Ya-Fei, Lewis, Jada, Dickson, Dennis W., Petrucelli, Leonard, Mitchell, Jacqueline C., Shaw, Christopher E., Miller, Christopher C. J.

Volltext

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations von Alami, Nael H, Smith, Rebecca B, Carrasco, Monica A, Williams, Luis A, Winborn, Christina S, Han, Steve S W, Kiskinis, Evangelos, Winborn, Brett, Freibaum, Brian D, Kanagaraj, Anderson, Clare, Alison J, Badders, Nisha M, Bilican, Bilada, Chaum, Edward, Chandran, Siddharthan, Shaw, Christopher E, Eggan, Kevin C, Maniatis, Tom, Taylor, J Paul

Volltext

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic von Lee, Youn-Bok, Chen, Han-Jou, Peres, João N., Gomez-Deza, Jorge, Attig, Jan, Štalekar, Maja, Troakes, Claire, Nishimura, Agnes L., Scotter, Emma L., Vance, Caroline, Adachi, Yoshitsugu, Sardone, Valentina, Miller, Jack W., Smith, Bradley N., Gallo, Jean-Marc, Ule, Jernej, Hirth, Frank, Rogelj, Boris, Houart, Corinne, Shaw, Christopher E.

Volltext

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS von Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Smith, Bradley, Maekawa, Satomi, Bodi, Istvan, Rogelj, Boris, Al-Chalabi, Ammar, Hortobágyi, Tibor, Shaw, Christopher E.

Volltext

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy von Chen, Han-Jou, Topp, Simon D, Hui, Ho Sang, Zacco, Elsa, Katarya, Malvika, McLoughlin, Conor, King, Andrew, Smith, Bradley N, Troakes, Claire, Pastore, Annalisa, Shaw, Christopher E

Volltext

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology von Zhao, Chen, Devlin, Anna‐Claire, Chouhan, Amit K., Selvaraj, Bhuvaneish T., Stavrou, Maria, Burr, Karen, Brivio, Veronica, He, Xin, Mehta, Arpan R., Story, David, Shaw, Christopher E., Dando, Owen, Hardingham, Giles E., Miles, Gareth B., Chandran, Siddharthan

Volltext

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species von Scotter, Emma L, Vance, Caroline, Nishimura, Agnes L, Lee, Youn-Bok, Chen, Han-Jou, Urwin, Hazel, Sardone, Valentina, Mitchell, Jacqueline C, Rogelj, Boris, Rubinsztein, David C, Shaw, Christopher E

Volltext

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 von Ule, Jernej, Tollervey, James R, Curk, Toma, Rogelj, Boris, Briese, Michael, Cereda, Matteo, Kayikci, Melis, König, Julian, Hortobágyi, Tibor, Nishimura, Agnes L, upunski, Vera, Patani, Rickie, Chandran, Siddharthan, Rot, Gregor, Zupan, Bla, Shaw, Christopher E

Volltext

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules von Vance, Caroline, Scotter, Emma L, Nishimura, Agnes L, Troakes, Claire, Mitchell, Jacqueline C, Kathe, Claudia, Urwin, Hazel, Manser, Catherine, Miller, Christopher C, Hortobágyi, Tibor, Dragunow, Mike, Rogelj, Boris, Shaw, Christopher E

Volltext

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis von Chen, Han-Jou, Mitchell, Jacqueline C, Novoselov, Sergey, Miller, Jack, Nishimura, Agnes L, Scotter, Emma L, Vance, Caroline A, Cheetham, Michael E, Shaw, Christopher E

Volltext

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 von Vance, Caroline, Rogelj, Boris, Hortobágyi, Tibor, De Vos, Kurt J, Nishimura, Agnes Lumi, Sreedharan, Jemeen, Hu, Xun, Smith, Bradley, Ruddy, Deborah, Wright, Paul, Ganesalingam, Jeban, Williams, Kelly L, Tripathi, Vineeta, Al-Saraj, Safa, Al-Chalabi, Ammar, Leigh, P. Nigel, Blair, Ian P, Nicholson, Garth, de Belleroche, Jackie, Gallo, Jean-Marc, Miller, Christopher C, Shaw, Christopher E

Volltext

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion von Mitchell, Jacqueline C., McGoldrick, Philip, Vance, Caroline, Hortobagyi, Tibor, Sreedharan, Jemeen, Rogelj, Boris, Tudor, Elizabeth L., Smith, Bradley N., Klasen, Christian, Miller, Christopher C. J., Cooper, Jonathan D., Greensmith, Linda, Shaw, Christopher E.

Volltext

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study von Al-Chalabi, Ammar, Prof, Calvo, Andrea, MD, Chio, Adriano, Prof, Colville, Shuna, MPH, Ellis, Cathy M, PhD, Hardiman, Orla, Prof, Heverin, Mark, MSc, Howard, Robin S, PhD, Huisman, Mark H B, MD, Keren, Noa, MBBS, Leigh, P Nigel, Prof, Mazzini, Letizia, MD, Mora, Gabriele, MD, Orrell, Richard W, MD, Rooney, James, MSc, Scott, Kirsten M, MBBS, Scotton, William J, MBioch, Seelen, Meinie, MD, Shaw, Christopher E, Prof, Sidle, Katie S, PhD, Swingler, Robert, MD, Tsuda, Miho, MBChB, Veldink, Jan H, Prof, Visser, Anne E, MD, van den Berg, Leonard H, Prof, Pearce, Neil, Prof

Volltext

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy von Serio, Andrea, Bilican, Bilada, Barmada, Sami J., Ando, Dale Michael, Zhao, Chen, Siller, Rick, Burr, Karen, Haghi, Ghazal, Story, David, Nishimura, Agnes Lumi, Carrasco, Monica A., Phatnani, Hemali P., Shum, Carole, Wilmut, Ian, Maniatis, Tom, Shaw, Christopher E., Finkbeiner, Steven, Chandran, Siddharthan

Volltext

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis von Sreedharan, Jemeen, Blair, Ian P, Tripathi, Vineeta B, Hu, Xun, Vance, Caroline, Rogelj, Boris, Ackerley, Steven, Durnall, Jennifer C, Williams, Kelly L, Buratti, Emanuele, Baralle, Francisco, de Belleroche, Jacqueline, Mitchell, J. Douglas, Leigh, P. Nigel, Al-Chalabi, Ammar, Miller, Christopher C, Nicholson, Garth, Shaw, Christopher E

Volltext

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK von Morgan, Sarah, Shatunov, Aleksey, Sproviero, William, Jones, Ashley R, Shoai, Maryam, Hughes, Deborah, Al Khleifat, Ahmad, Malaspina, Andrea, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Sidle, Katie, Orrell, Richard W, Fratta, Pietro, Hardy, John, Pittman, Alan, Al-Chalabi, Ammar

Volltext

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA von Yamazaki, Tomohiro, Chen, Shi, Yu, Yong, Yan, Biao, Haertlein, Tyler C., Carrasco, Monica A., Tapia, Juan C., Zhai, Bo, Das, Rita, Lalancette-Hebert, Melanie, Sharma, Aarti, Chandran, Siddharthan, Sullivan, Gareth, Nishimura, Agnes Lumi, Shaw, Christopher E., Gygi, Steve P., Shneider, Neil A., Maniatis, Tom, Reed, Robin

Volltext

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 von Arnold, Eveline S, Ling, Shuo-Chien, Huelga, Stephanie C, Lagier-Tourenne, Clotilde, Polymenidou, Magdalini, Ditsworth, Dara, Kordasiewicz, Holly B, McAlonis-Downes, Melissa, Platoshyn, Oleksandr, Parone, Philippe A, Da Cruz, Sandrine, Clutario, Kevin M, Swing, Debbie, Tessarollo, Lino, Marsala, Martin, Shaw, Christopher E, Yeo, Gene W, Cleveland, Don W

Volltext

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis von Dobson-Stone, Carol, Hallupp, Marianne, Shahheydari, Hamideh, Ragagnin, Audrey M. G., Chatterton, Zac, Carew-Jones, Francine, Shepherd, Claire E., Stefen, Holly, Paric, Esmeralda, Fath, Thomas, Thompson, Elizabeth M., Blumbergs, Peter, Short, Cathy L., Field, Colin D., Panegyres, Peter K., Hecker, Jane, Nicholson, Garth, Shaw, Alex D., Fullerton, Janice M., Luty, Agnes A., Schofield, Peter R., Brooks, William S., Rajan, Neil, Bennett, Mark F., Bahlo, Melanie, Shankaracharya, Landers, John E., Piguet, Olivier, Hodges, John R., Halliday, Glenda M., Topp, Simon D., Smith, Bradley N., Shaw, Christopher E., McCann, Emily, Fifita, Jennifer A., Williams, Kelly L., Atkin, Julie D., Blair, Ian P., Kwok, John B.

Volltext

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content von De Vos, Kurt J., Chapman, Anna L., Tennant, Maria E., Manser, Catherine, Tudor, Elizabeth L., Lau, Kwok-Fai, Brownlees, Janet, Ackerley, Steven, Shaw, Pamela J., McLoughlin, Declan M., Shaw, Christopher E., Leigh, P. Nigel, Miller, Christopher C.J., Grierson, Andrew J.

Volltext