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Items: 1 to 20 of 24

1.
ALS2-related disorders in Spanish children
Enrique Nogueira, Juana Alarcón, Carmen Garma, Cecilia Paredes
Neurol Sci. 2021; 42(5): 2091–2094. Published online 2021 Jan 7. doi: 10.1007/s10072-020-04899-0
PMCID:
PMC8043897
AbstractArticlePDF–651K
2.
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function
Kai Sato, Asako Otomo, Mahoko Takahashi Ueda, Yui Hiratsuka, Kyoko Suzuki-Utsunomiya, Junya Sugiyama, Shuji Murakoshi, Shun Mitsui, Suzuka Ono, So Nakagawa, Hui-Fang Shang, Shinji Hadano
J Biol Chem. 2018 Nov 2; 293(44): 17135–17153. Published online 2018 Sep 17. doi: 10.1074/jbc.RA118.003849
PMCID:
PMC6222102
AbstractArticlePDF–5.6M
3.
A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias
Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L. Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E. Shyong Tai, Gene W. Yeo, Chiea Chuen Khor
PLoS One. 2014; 9(12): e113258. Published online 2014 Dec 4. doi: 10.1371/journal.pone.0113258
PMCID:
PMC4256290
AbstractArticlePDF–397K
4.
ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia
Una-Marie Sheerin, Susanne A. Schneider, Lucinda Carr, Guenther Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W. Wood, Kailash P. Bhatia
Neurology. 2014 Mar 25; 82(12): 1065–1067. doi: 10.1212/WNL.0000000000000254
PMCID:
PMC3962990
AbstractArticlePDF–182K
5.
Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene
Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, Matteo di Capua, Enrico Bertini, Odile Boespflug-Tanguy
Am J Hum Genet. 2002 Sep; 71(3): 518–527. Published online 2002 Jul 26. doi: 10.1086/342359
PMCID:
PMC379189
AbstractArticlePDF–270K
6.
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
Koji Yamanaka, Christine Vande Velde, Eleonore Eymard-Pierre, Enrico Bertini, Odile Boespflug-Tanguy, Don W. Cleveland
Proc Natl Acad Sci U S A. 2003 Dec 23; 100(26): 16041–16046. Published online 2003 Dec 10. doi: 10.1073/pnas.2635267100
PMCID:
PMC307689
AbstractArticlePDF–943K
7.
Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria
FoSheng Hsu, Stephanie Spannl, Charles Ferguson, Anthony A Hyman, Robert G Parton, Marino Zerial
eLife. 2018; 7: e32282. Published online 2018 Feb 22. doi: 10.7554/eLife.32282
PMCID:
PMC5847334
AbstractArticlePDF–13M
8.
Alsin and the Molecular Pathways of Amyotrophic Lateral Sclerosis
Jayanth Chandran, Jinhui Ding, Huaibin Cai
Mol Neurobiol. Author manuscript; available in PMC 2008 May 2.
Published in final edited form as: Mol Neurobiol. 2007 Dec; 36(3): 224–231. Published online 2007 Jul 10. doi: 10.1007/s12035-007-0034-x
PMCID:
PMC2364715
AbstractArticlePDF–469K
9.
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
Eur J Hum Genet. 2017 Jan; 25(1): 100–110. Published online 2016 Sep 7. doi: 10.1038/ejhg.2016.108
PMCID:
PMC5159756
AbstractArticlePDF–2.2M
10.
VCP Phosphorylation-Dependent Interaction Partners Prevent Apoptosis in Helicobacter pylori-Infected Gastric Epithelial Cells
Cheng-Chou Yu, Jyh-Chin Yang, Yen-Ching Chang, Jiing-Guang Chuang, Chung-Wu Lin, Ming-Shiang Wu, Lu-Ping Chow
PLoS One. 2013; 8(1): e55724. Published online 2013 Jan 31. doi: 10.1371/journal.pone.0055724
PMCID:
PMC3561343
AbstractArticlePDF–1.9M
11.
Receptor‐mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy
Amelia E Ohnstad, Jose M Delgado, Brian J North, Isha Nasa, Arminja N Kettenbach, Sebastian W Schultz, Christopher J Shoemaker
EMBO J. 2020 Dec 15; 39(24): e104948. Published online 2020 Nov 23. doi: 10.15252/embj.2020104948
PMCID:
PMC7737610
AbstractArticlePDF–3.7M
12.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M
13.
Large-scale mapping of human protein–protein interactions by mass spectrometry
Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys
Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134
PMCID:
PMC1847948
AbstractArticlePDF–440K
14.
Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
AbstractArticlePDF–181K
15.
SARS‐CoV‐2–host proteome interactions for antiviral drug discovery
Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo
Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396
PMCID:
PMC8552907
AbstractArticlePDF–3.9M
16.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
17.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
18.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
19.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
20.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M

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