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Items: 1 to 20 of 271

1.
Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins
Shoji Watanabe, Kumi Kaneko, Koji Yamanaka
J Biol Chem. 2013 Feb 1; 288(5): 3641–3654. Published online 2012 Dec 12. doi: 10.1074/jbc.M112.433615
PMCID:
PMC3561582
AbstractArticlePDF–4.6M
2.
ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects
Haiyan Qiu, Sebum Lee, Yulei Shang, Wen-Yuan Wang, Kin Fai Au, Sherry Kamiya, Sami J. Barmada, Steven Finkbeiner, Hansen Lui, Caitlin E. Carlton, Amy A. Tang, Michael C. Oldham, Hejia Wang, James Shorter, Anthony J. Filiano, Erik D. Roberson, Warren G. Tourtellotte, Bin Chen, Li-Huei Tsai, Eric J. Huang
J Clin Invest. 2014 Mar 3; 124(3): 981–999. Published online 2014 Feb 10. doi: 10.1172/JCI72723
PMCID:
PMC3938263
AbstractArticlePDF–5.9M
3.
Intranuclear Aggregation of Mutant FUS/TLS as a Molecular Pathomechanism of Amyotrophic Lateral Sclerosis
Takao Nomura, Shoji Watanabe, Kumi Kaneko, Koji Yamanaka, Nobuyuki Nukina, Yoshiaki Furukawa
J Biol Chem. 2014 Jan 10; 289(2): 1192–1202. Published online 2013 Nov 26. doi: 10.1074/jbc.M113.516492
PMCID:
PMC3887186
AbstractArticlePDF–2.8M
4.
Homozygosity analysis in amyotrophic lateral sclerosis
Kin Mok, Hannu Laaksovirta, Pentti J Tienari, Terhi Peuralinna, Liisa Myllykangas, Adriano Chiò, Bryan J Traynor, Michael A Nalls, Nicole Gurunlian, Aleksey Shatunov, Gabriella Restagno, Gabriele Mora, P Nigel Leigh, Chris E Shaw, Karen E Morrison, Pamela J Shaw, Ammar Al-Chalabi, John Hardy, Richard W Orrell
Eur J Hum Genet. 2013 Dec; 21(12): 1429–1435. Published online 2013 Apr 24. doi: 10.1038/ejhg.2013.59
PMCID:
PMC3829775
AbstractArticlePDF–2.1M
5.
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Budrul Ahsan, Takashi Matsukawa, Yaeko Ichikawa, Takashi Moritoyo, Mayumi Ikoma, Tsukasa Hashimoto, Fumiharu Kimura, Shigeo Murayama, Osamu Onodera, Masatoyo Nishizawa, Mari Yoshida, Naoki Atsuta, Gen Sobue, JaCALS, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma Gonzalez-Perez, Robert H. Brown, Jr., Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji
Am J Hum Genet. 2013 Nov 7; 93(5): 900–905. doi: 10.1016/j.ajhg.2013.09.008
PMCID:
PMC3824132
AbstractArticlePDF–358K
6.
Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide
Craig L. Bennett, Yingzhang Chen, Marissa Vignali, Russell S. Lo, Amanda G. Mason, Asli Unal, Nabiha P. Huq Saifee, Stanley Fields, Albert R. La Spada
PLoS One. 2013; 8(11): e78837. Published online 2013 Nov 11. doi: 10.1371/journal.pone.0078837
PMCID:
PMC3823977
AbstractArticlePDF–1.1M
7.
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons
Leonardo Aliaga, Chen Lai, Jia Yu, Nikolai Chub, Hoon Shim, Lixin Sun, Chengsong Xie, Wan-Jou Yang, Xian Lin, Michael J. O'Donovan, Huaibin Cai
Hum Mol Genet. 2013 Nov 1; 22(21): 4293–4305. Published online 2013 Jun 13. doi: 10.1093/hmg/ddt279
Correction in:
Hum Mol Genet. 2014 Jun 1; 23(11): 3069.
PMCID:
PMC3792689
AbstractArticlePDF–2.1M
8.
A System Mathematical Model of Cell-cell Communication Network in Amyotrophic Lateral Sclerosis
Hongwei Shao, Ying He, King C. P. Li, Xiaobo Zhou
Mol Biosyst. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Mol Biosyst. 2013 Mar; 9(3): 398–406. Published online 2013 Jan 4. doi: 10.1039/c2mb25370d
PMCID:
PMC3752652
AbstractArticlePDF–3.2M
9.
De Novo Mutations in Ataxin-2 Gene and ALS Risk
José Miguel Laffita-Mesa, Jorge Michel Rodríguez Pupo, Raciel Moreno Sera, Yaimee Vázquez Mojena, Vivian Kourí, Leonides Laguna-Salvia, Michael Martínez-Godales, José A. Valdevila Figueira, Peter O. Bauer, Roberto Rodríguez-Labrada, Yanetza González Zaldívar, Martin Paucar, Per Svenningsson, Luís Velázquez Pérez
PLoS One. 2013; 8(8): e70560. Published online 2013 Aug 6. doi: 10.1371/journal.pone.0070560
PMCID:
PMC3735591
AbstractArticlePDF–1.0M
10.
Single chain variable fragment antibodies block aggregation and toxicity induced by familial ALS-linked mutant forms of SOD1
Ghanashyam D. Ghadge, John Pavlovic, Sujatha P. Koduvayur, Brian K. Kay, Raymond P. Roos
Neurobiol Dis. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Neurobiol Dis. 2013 Aug; 56: 74–78. Published online 2013 Apr 20. doi: 10.1016/j.nbd.2013.04.007
Correction in:
volume 58 on page 115
PMCID:
PMC3725968
AbstractArticlePDF–969K
11.
MST1 functions as a key modulator of neurodegeneration in a mouse model of ALS
Jae Keun Lee, Jin Hee Shin, Sang Gil Hwang, Byoung Joo Gwag, Ann C. McKee, Junghee Lee, Neil W. Kowall, Hoon Ryu, Dae-Sik Lim, Eui-Ju Choi
Proc Natl Acad Sci U S A. 2013 Jul 16; 110(29): 12066–12071. Published online 2013 Jul 1. doi: 10.1073/pnas.1300894110
PMCID:
PMC3718122
AbstractArticlePDF–1.3M
12.
Functional Modulation of the Glutamate Transporter Variant GLT1b by the PDZ Domain Protein PICK1
Rikke Sogaard, Lars Borre, Thomas H. Braunstein, Kenneth L. Madsen, Nanna MacAulay
J Biol Chem. 2013 Jul 12; 288(28): 20195–20207. Published online 2013 May 22. doi: 10.1074/jbc.M113.471128
PMCID:
PMC3711287
AbstractArticlePDF–1.1M
13.
FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns
Tadashi Nakaya, Panagiotis Alexiou, Manolis Maragkakis, Alexandra Chang, Zissimos Mourelatos
RNA. 2013 Apr; 19(4): 498–509. doi: 10.1261/rna.037804.112
PMCID:
PMC3677260
AbstractArticlePDF–605K
14.
Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Sarju G. Mehta, Manaswitha Khare, Rupal Ramani, Giles D. J. Watts, Mariella Simon, Kathryn E. Osann, Sandra Donkervoort, Eric Dec, Angele Nalbandian, Julia Platt, Marzia Pasquali, Annabel Wang, Tahseen Mozaffar, Charles D. Smith, Virginia E. Kimonis
Clin Genet. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Clin Genet. 2013 May; 83(5): 422–431. Published online 2012 Oct 4. doi: 10.1111/cge.12000
PMCID:
PMC3618576
AbstractArticlePDF–1.1M
15.
Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis
Carol Dobson-Stone, Agnes A. Luty, Elizabeth M. Thompson, Peter Blumbergs, William S. Brooks, Cathy L. Short, Colin D. Field, Peter K. Panegyres, Jane Hecker, Jennifer A. Solski, Ian P. Blair, Janice M. Fullerton, Glenda M. Halliday, Peter R. Schofield, John B. J. Kwok
Acta Neuropathol. 2013; 125(4): 523–533. Published online 2013 Jan 22. doi: 10.1007/s00401-013-1078-9
PMCID:
PMC3611035
AbstractArticlePDF–901K
16.
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, Pamela J. Keagle, Peter C. Sapp, Katarzyna Piotrowska, Patrick Lowe, Max Koppers, Diane McKenna-Yasek, Desiree M. Baron, Jason E. Kost, Paloma Gonzalez-Perez, Andrew D. Fox, Jenni Adams, Franco Taroni, Cinzia Tiloca, Ashley Lyn Leclerc, Shawn C. Chafe, Dev Mangroo, Melissa J. Moore, Jill A. Zitzewitz, Zuo-Shang Xu, Leonard H. van den Berg, Jonathan D. Glass, Gabriele Siciliano, Elizabeth T. Cirulli, David B. Goldstein, Francois Salachas, Vincent Meininger, Wilfried Rossoll, Antonia Ratti, Cinzia Gellera, Daryl A. Bosco, Gary J. Bassell, Vincenzo Silani, Vivian E. Drory, Robert H. Brown, Jr., John E. Landers
Nature. Author manuscript; available in PMC 2013 Feb 22.
Published in final edited form as: Nature. 2012 Aug 23; 488(7412): 499–503. doi: 10.1038/nature11280
PMCID:
PMC3575525
AbstractArticlePDF–643K
17.
Axonal transport of TDP-43 mRNA granules in neurons is impaired by ALS-causing mutations
Nael H. Alami, Rebecca B. Smith, Monica A. Carrasco, Luis A. Williams, Christina S. Winborn, Steve S. W. Han, Evangelos Kiskinis, Brett Winborn, Brian D. Freibaum, Anderson Kanagaraj, Alison J. Clare, Nisha M. Badders, Bilada Bilican, Edward Chaum, Siddharthan Chandran, Christopher E. Shaw, Kevin C. Eggan, Tom Maniatis, J. Paul Taylor
Neuron. Author manuscript; available in PMC 2015 Feb 5.
Published in final edited form as: Neuron. 2014 Feb 5; 81(3): 536–543. doi: 10.1016/j.neuron.2013.12.018
PMCID:
PMC3939050
AbstractArticlePDF–3.8M
18.
hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction
Andrea Chai, James Withers, Young Ho Koh, Katherine Parry, Hong Bao, Bing Zhang, Vivian Budnik, Giuseppa Pennetta
Hum Mol Genet. Author manuscript; available in PMC 2012 Dec 6.
Published in final edited form as: Hum Mol Genet. 2008 Jan 15; 17(2): 266–280. Published online 2007 Oct 18. doi: 10.1093/hmg/ddm303
PMCID:
PMC3516386
AbstractArticlePDF–4.2M
19.
Heteromeric p97/p97R155C Complexes Induce Dominant Negative Changes in Wild-Type and Autophagy 9-Deficient Dictyostelium strains
Khalid Arhzaouy, Karl-Heinz Strucksberg, Sze Man Tung, Karthikeyan Tangavelou, Maria Stumpf, Jan Faix, Rolf Schröder, Christoph S. Clemen, Ludwig Eichinger
PLoS One. 2012; 7(10): e46879. Published online 2012 Oct 3. doi: 10.1371/journal.pone.0046879
Correction in:
PLoS One. 2018; 13(6): e0199548.
PMCID:
PMC3463532
AbstractArticlePDF–2.8M
20.
Targeted Depletion of TDP-43 Expression in the Spinal Cord Motor Neurons Leads to the Development of Amyotrophic Lateral Sclerosis-like Phenotypes in Mice
Lien-Szu Wu, Wei-Cheng Cheng, C.-K. James Shen
J Biol Chem. 2012 Aug 10; 287(33): 27335–27344. Published online 2012 Jun 20. doi: 10.1074/jbc.M112.359000
PMCID:
PMC3431639
AbstractArticlePDF–2.1M

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