PMC Links for GEO Profiles (Select 21319933) - PMC

Anna V. Luebben, Daniel Bender, Stefan Becker, Lisa M. Crowther, Ilka Erven, Kay Hofmann, Johannes Söding, Henry Klemp, Cristina Bellotti, Andreas Stäuble, Tian Qiu, Rahul S. Kathayat, Bryan C. Dickinson, Jutta Gärtner, George M. Sheldrick, Ralph Krätzner, Robert Steinfeld

Sci Adv. 2022 Apr; 8(15): eabj8633. Published online 2022 Apr 15. doi: 10.1126/sciadv.abj8633

PMCID:: PMC9012467

Abstract Article PDF–1.6M

Select item 85334944.

Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement

Indranil Basak, Rachel A. Hansen, Michael E. Ward, Stephanie M. Hughes

Biomolecules. 2021 Oct; 11(10): 1412. Published online 2021 Sep 27. doi: 10.3390/biom11101412

PMCID:: PMC8533494

Abstract Article PDF–2.8M

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 80958836.

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses

Sara E. Mole

Brain Pathol. 2004 Jan; 14(1): 70–76. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00500.x

PMCID:: PMC8095883

Summary PDF–124K

Select item 78446947.

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy

Moustafa S. Magliyah, Sinje Geuer, Abrar K. Alsalamah, Steffen Lenzner, Mojgan Drasdo, Patrik Schatz

JAMA Ophthalmol. 2021 Mar; 139(3): 1–5. Published online 2021 Jan 28. doi: 10.1001/jamaophthalmol.2020.6085

PMCID:: PMC7844694

Abstract Article

Select item 75254418.

Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion

Hyeon Gyu Seo, Han Byeol Kim, Ji Young Yoon, Tae Hyun Kweon, Yun Soo Park, Jingu Kang, Jinwoo Jung, SeongJin Son, Eugene C. Yi, Tae Ho Lee, Won Ho Yang, Jin Won Cho

Cell Death Dis. 2020 Sep; 11(9): 815. Published online 2020 Sep 29. doi: 10.1038/s41419-020-02999-5

PMCID:: PMC7525441

Abstract Article PDF–3.7M

Select item 73061509.

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis

Beenish Azad, Stephanie Efthymiou, Tipu Sultan, Marcello Scala, Javeria Raza Alvi, Caroline Neuray, Natalia Dominik, SYNaPS Study Group, Asma Gul, Henry Houlden

J Neurol Sci. 2020 Jul 15; 414: 116826. doi: 10.1016/j.jns.2020.116826

PMCID:: PMC7306150

Abstract Article

Select item 726821510.

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient

Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella

Orphanet J Rare Dis. 2020; 15: 132. Published online 2020 Jun 2. doi: 10.1186/s13023-020-01410-y

PMCID:: PMC7268215

Abstract Article PDF–1.1M

Select item 721666911.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

BMC Med Genet. 2020; 21: 100. Published online 2020 May 11. doi: 10.1186/s12881-020-01039-5

PMCID:: PMC7216669

Abstract Article PDF–1.1M

Select item 716998312.

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 660195013.

An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep

Nicholas Perentos, Amadeu Q. Martins, Robin J. M. Cumming, Nadia L. Mitchell, David N. Palmer, Stephen J. Sawiak, A. Jennifer Morton

J Neurosci. 2016 Aug 3; 36(31): 8238–8249. doi: 10.1523/JNEUROSCI.4295-15.2016

PMCID:: PMC6601950

Abstract Article PDF–2.7M

Select item 617108214.

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease

Nadia L. Mitchell, Katharina N. Russell, Martin P. Wellby, Hollie E. Wicky, Lucia Schoderboeck, Graham K. Barrell, Tracy R. Melzer, Steven J. Gray, Stephanie M. Hughes, David N. Palmer

Mol Ther. 2018 Oct 3; 26(10): 2366–2378. Published online 2018 Jul 17. doi: 10.1016/j.ymthe.2018.07.015

PMCID:: PMC6171082

Abstract Article PDF–2.6M

Select item 616898415.

An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect

Yasir H. Qureshi, Vivek M. Patel, Diego E. Berman, Milankumar J. Kothiya, Jessica L. Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne J. Jiménez-Velázquez, Scott A. Small, Christiane Reitz

Mol Cell Biol. 2018 Oct 15; 38(20): e00011-18. Prepublished online 2018 Jul 23. Published online 2018 Sep 28. doi: 10.1128/MCB.00011-18

PMCID:: PMC6168984

Abstract Article PDF–2.6M

Select item 597520216.

TDP-43 interacts with mitochondrial proteins critical for mitophagy and mitochondrial dynamics

Stephani A. Davis, Sheed Itaman, Christopher M. Khalid-Janney, Justin A. Sherard, James A. Dowell, Nigel J. Cairns, Michael A. Gitcho

Neurosci Lett. Author manuscript; available in PMC 2019 Jun 21.

Published in final edited form as: Neurosci Lett. 2018 Jun 21; 678: 8–15. Published online 2018 Apr 30. doi: 10.1016/j.neulet.2018.04.053

PMCID:: PMC5975202

Abstract Article PDF–543K

Select item 553161117.

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

Abstract Article PDF–2.7M

Select item 461721118.

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

Abstract Article PDF–2.2M

Select item 458953319.

Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5

Bhagya De Silva, Jessie Adams, Stella Y. Lee

Exp Cell Res. Author manuscript; available in PMC 2016 Oct 15.

Published in final edited form as: Exp Cell Res. 2015 Oct 15; 338(1): 45–53. Published online 2015 Sep 3. doi: 10.1016/j.yexcr.2015.08.021

PMCID:: PMC4589533

Abstract Article PDF–1.3M

Select item 428259420.

Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette Syndrome and Obsessive-Compulsive Disorder

Dongmei Yu, Carol A. Mathews, Jeremiah M. Scharf, Benjamin M. Neale, Lea K. Davis, Eric R. Gamazon, Eske M. Derks, Patrick Evans, Christopher K. Edlund, Jacquelyn Crane, Jesen A. Fagerness, Lisa Osiecki, Patience Gallagher, Gloria Gerber, Stephen Haddad, Cornelia Illmann, Lauren M. McGrath, Catherine Mayerfeld, Sampath Arepalli, Cristina Barlassina, Cathy L. Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, O. Joseph Bienvenu, Donald Black, Michael H. Bloch, Helena Brentani, Ruth D. Bruun, Cathy L. Budman, Beatriz Camarena, Desmond D. Campbell, Carolina Cappi, Julio C. Cardona Silgado, Maria C. Cavallini, Denise A. Chavira, Sylvain Chouinard, Edwin H. Cook, M. R. Cookson, Vladimir Coric, Bernadette Cullen, Daniele Cusi, Richard Delorme, Damiaan Denys, Yves Dion, Valsama Eapen, Karin Egberts, Peter Falkai, Thomas Fernandez, Eduardo Fournier, Helena Garrido, Daniel Geller, Donald Gilbert, Simon L. Girard, Hans J. Grabe, Marco A. Grados, Benjamin D. Greenberg, Varda Gross-Tsur, Edna Grünblatt, John Hardy, Gary A. Heiman, Sian M.J. Hemmings, Luis D. Herrera, Dianne M. Hezel, Pieter J. Hoekstra, Joseph Jankovic, James L. Kennedy, Robert A. King, Anuar I. Konkashbaev, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F. Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L. Lowe, Sara Lupoli, Fabio Macciardi, Wolfgang Maier, Paolo Manunta, Maurizio Marconi, James T. McCracken, Sandra C. Mesa Restrepo, Rainald Moessner, Priya Moorjani, Jubel Morgan, Heike Muller, Dennis L. Murphy, Allan L. Naarden, William Cornejo Ochoa, Roel A. Ophoff, Andrew J. Pakstis, Michele T. Pato, Carlos N. Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L. Rauch, Tobias Renner, Victor I. Reus, Margaret A. Richter, Mark A. Riddle, Mary M. Robertson, Roxana Romero, Maria C. Rosário, David Rosenberg, Stephan Ruhrmann, Chiara Sabatti, Erika Salvi, Aline S. Sampaio, Jack Samuels, Paul Sandor, Susan K. Service, Brooke Sheppard, Harvey S. Singer, Jan H. Smit, Dan J. Stein, Eric Strengman, Jay A. Tischfield, Maurizio Turiel, Ana V. Valencia Duarte, Homero Vallada, Jeremy Veenstra-VanderWeele, Prof. Susanne Walitza, John Walkup, Ying Wang, Mike Weale, Robert Weiss, Jens R. Wendland, Herman G.M. Westenberg, Yin Yao, Ana G. Hounie, Euripedes C. Miguel, Humberto Nicolini, Michael Wagner, Andres Ruiz-Linares, Danielle C. Cath, William McMahon, Danielle Posthuma, Ben A. Oostra, Gerald Nestadt, Guy A. Rouleau, Shaun Purcell, Michael A. Jenike, Peter Heutink, Gregory L. Hanna, David V. Conti, Paul D. Arnold, Nelson Freimer, S. Evelyn Stewart, James A. Knowles, Nancy J. Cox, David L. Pauls

Am J Psychiatry. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Am J Psychiatry. 2015 Jan 1; 172(1): 82–93. Published online 2014 Oct 31. doi: 10.1176/appi.ajp.2014.13101306

PMCID:: PMC4282594

Abstract Article PDF–1005K

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