PMC Links for GEO Profiles (Select 104560810) - PMC

Select item 110494331.

Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy

Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Conforti

Cells. 2024 Apr; 13(8): 677. Published online 2024 Apr 14. doi: 10.3390/cells13080677

PMCID:: PMC11049433

Abstract Article PDF–1.6M

Select item 107037232.

LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1

Min Jiang, Yu Song, Mei-Xia Ren, Run-Chao He, Xian-Hui Dong, Xue-Heng Li, Zhi-Feng Lu, Shu Li, Jia Wu, Yan-Rou Bei, Fei Liu, Yan Long, Shao-Guo Wu, Xue-Hui Liu, Li-Mei Wu, Hong-Ling Yang, David G. McVey, Xiao-Yan Dai, Shu Ye, Yan-Wei Hu

J Adv Res. 2023 Dec; 54: 29–42. Published online 2023 Feb 2. doi: 10.1016/j.jare.2023.01.017

PMCID:: PMC10703723

Abstract Article PDF–4.6M

Select item 100140043.

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

Shih‐Yu Fang, Ying‐Tsen Chou, Kuo‐Chou Hsu, Shao‐Lun Hsu, Kai‐Wei Yu, Yu‐Shuen Tsai, Yi‐Chu Liao, Pei‐Chien Tsai, Yi‐Chung Lee

Ann Clin Transl Neurol. 2023 Mar; 10(3): 353–362. Published online 2023 Jan 6. doi: 10.1002/acn3.51724

PMCID:: PMC10014004

Abstract Article PDF–2.1M

Select item 91197364.

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

Abstract Article PDF–3.3M

Select item 81650305.

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 78935986.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Gijs H.P. Tazelaar, Annelot M. Dekker, Joke J.F.A. van Vugt, Rick A. van der Spek, Henk-Jan Westeneng, Lindy J.B.G. Kool, Kevin P. Kenna, Wouter van Rheenen, Sara L. Pulit, Russell L. McLaughlin, William Sproviero, Alfredo Iacoangeli, Annemarie Hübers, David Brenner, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Monica Povedano Panadés, Jesus S. Mora Pardina, Jonathan D. Glass, Orla Hardiman, Ammar Al-Chalabi, Philip van Damme, Wim Robberecht, John E. Landers, Albert C. Ludolph, Jochen H. Weishaupt, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es

Neurobiol Aging. Author manuscript; available in PMC 2021 Feb 19.

Published in final edited form as: Neurobiol Aging. 2019 Feb; 74: 234.e9–234.e15. Published online 2018 Sep 22. doi: 10.1016/j.neurobiolaging.2018.09.012

PMCID:: PMC7893598

Abstract Article PDF–561K

Select item 73220677.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 71699838.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 54537999.

Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome

Douglas C. Bittel, Nataliya Kibiryeva, Merlin G. Butler

Pediatrics. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Pediatrics. 2006 Oct; 118(4): e1276–e1283. Published online 2006 Sep 18. doi: 10.1542/peds.2006-0424

PMCID:: PMC5453799

Abstract Article PDF–641K

Select item 537173010.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 413860511.

Pure hereditary spastic paraplegia due to a de-novo mutation in the NIPA1 gene

David Arkadir, Anne Noreau, Jill S. Goldman, Guy A. Rouleau, Roy N. Alcalay

Eur J Neurol. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Eur J Neurol. 2014; 21(1): e2. Published online 2013 Dec 10. doi: 10.1111/ene.12284

PMCID:: PMC4138605

Article PDF–64K

Select item 317805912.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 274889113.

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

Hilda T.H. Tsang, Thomas L. Edwards, Xinnan Wang, James W. Connell, Rachel J. Davies, Hannah J. Durrington, Cahir J. O'Kane, J. Paul Luzio, Evan Reid

Hum Mol Genet. 2009 Oct 15; 18(20): 3805–3821. Published online 2009 Jul 20. doi: 10.1093/hmg/ddp324

PMCID:: PMC2748891

Abstract Article PDF–742K

Select item 266032914.

Hereditary Spastic Paraplegia-Associated Mutations in the NIPA1 Gene and Its Caenorhabditis elegans Homolog Trigger Neural Degeneration In Vitro and In Vivo through a Gain-of-Function Mechanism

Jiali Zhao, Dawn S. Matthies, Emmanuel J. Botzolakis, Robert L. Macdonald, Randy D. Blakely, Peter Hedera

J Neurosci. 2008 Dec 17; 28(51): 13938–13951. doi: 10.1523/JNEUROSCI.4668-08.2008

PMCID:: PMC2660329

Abstract Article PDF–822K

Select item 185094315.

Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry

Tao Liu, Wei-Jun Qian, Marina A. Gritsenko, David G. Camp, II, Matthew E. Monroe, Ronald J. Moore, Richard D. Smith

J Proteome Res. Author manuscript; available in PMC 2007 Apr 10.

Published in final edited form as: J Proteome Res. 2005; 4(6): 2070–2080. doi: 10.1021/pr0502065

PMCID:: PMC1850943

Abstract Article PDF–626K

Select item 180132116.

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

J K Fink, C T Wu, S M Jones, G B Sharp, B M Lange, A Lesicki, T Reinglass, T Varvil, B Otterud, M Leppert

Am J Hum Genet. 1995 Jan; 56(1): 188–192.

PMCID:: PMC1801321

Summary Page Browse PDF–775K

Select item 118061717.

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D. Nicholls, John K. Fink

Am J Hum Genet. 2003 Oct; 73(4): 967–971. Published online 2003 Sep 23. doi: 10.1086/378817

PMCID:: PMC1180617

Abstract Article PDF–316K

Select item 118061118.

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

J-H. Chai, D. P. Locke, J. M. Greally, J. H. M. Knoll, T. Ohta, J. Dunai, A. Yavor, E. E. Eichler, R. D. Nicholls

Am J Hum Genet. 2003 Oct; 73(4): 898–925. Published online 2003 Sep 23. doi: 10.1086/378816

PMCID:: PMC1180611

Abstract Article PDF–1.6M

Select item 40374619.

Analysis of mRNA With Microsomal Fractionation Using a SAGE-Based DNA Microarray System Facilitates Identification of the Genes Encoding Secretory Proteins

Nobuaki Toyoda , Shigenori Nagai, Yuya Terashima, Kazushi Motomura, Makoto Haino, Shin-ichi Hashimoto, Hajime Takizawa, Kouji Matsushima

Genome Res. 2003 Jul; 13(7): 1728–1736. doi: 10.1101/gr.709603

PMCID:: PMC403746

Abstract Article PDF–631K

Select item 13924120.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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