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Select item 108645221.

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34

Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar

Cerebellum. 2024; 23(1): 268–277. Published online 2023 Jan 25. doi: 10.1007/s12311-023-01522-8

PMCID:: PMC10864522

Abstract Article PDF–1.2M

Select item 107245182.

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

Mol Genet Genomic Med. 2023 Dec; 11(12): e2256. Published online 2023 Aug 18. doi: 10.1002/mgg3.2256

PMCID:: PMC10724518

Abstract Article PDF–2.2M

Select item 100339373.

Assessment of community efforts to advance network-based prediction of protein–protein interactions

Xu-Wen Wang, Lorenzo Madeddu, Kerstin Spirohn, Leonardo Martini, Adriano Fazzone, Luca Becchetti, Thomas P. Wytock, István A. Kovács, Olivér M. Balogh, Bettina Benczik, Mátyás Pétervári, Bence Ágg, Péter Ferdinandy, Loan Vulliard, Jörg Menche, Stefania Colonnese, Manuela Petti, Gaetano Scarano, Francesca Cuomo, Tong Hao, Florent Laval, Luc Willems, Jean-Claude Twizere, Marc Vidal, Michael A. Calderwood, Enrico Petrillo, Albert-László Barabási, Edwin K. Silverman, Joseph Loscalzo, Paola Velardi, Yang-Yu Liu

Nat Commun. 2023; 14: 1582. Published online 2023 Mar 22. doi: 10.1038/s41467-023-37079-7

PMCID:: PMC10033937

Abstract Article PDF–1.5M

Select item 98232374.

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

Yeboah Kofi Gyening, Neeraj Kumar Chauhan, Madison Tytanic, Vicki Ea, Richard S. Brush, Martin-Paul Agbaga

J Lipid Res. 2023 Jan; 64(1): 100317. Published online 2022 Dec 1. doi: 10.1016/j.jlr.2022.100317

PMCID:: PMC9823237

Abstract Article PDF–3.3M

Select item 85608735.

Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia

Ying He, Katherine Phan, Surabhi Bhatia, Russell Pickford, YuHong Fu, Yue Yang, John R. Hodges, Olivier Piguet, Glenda M. Halliday, Woojin Scott Kim

Sci Rep. 2021; 11: 21348. Published online 2021 Nov 1. doi: 10.1038/s41598-021-00870-x

PMCID:: PMC8560873

Abstract Article PDF–4.5M

Select item 81650306.

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 80424007.

Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4

Gyening Kofi Yeboah, Ekaterina S. Lobanova, Richard S. Brush, Martin-Paul Agbaga

J Lipid Res. 2021; 62: 100030. Published online 2021 Feb 6. doi: 10.1016/j.jlr.2021.100030

PMCID:: PMC8042400

Abstract Article PDF–2.3M

Select item 79967618.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem

Genes (Basel) 2021 Mar; 12(3): 343. Published online 2021 Feb 26. doi: 10.3390/genes12030343

PMCID:: PMC7996761

Abstract Article PDF–3.0M

Select item 75159679.

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration

Martin-Paul Agbaga, Megan A. Stiles, Richard S. Brush, Michael T. Sullivan, Adeline Machalinski, Kenneth L. Jones, Robert E. Anderson, David M. Sherry

Mol Neurobiol. 2020; 57(11): 4735–4753. Published online 2020 Aug 11. doi: 10.1007/s12035-020-02052-8

PMCID:: PMC7515967

Abstract Article PDF–17M

Select item 716998310.

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 674025711.

Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3‐like macular dystrophy

Zheng Lai, Xian‐Ning Zhang, Wei Zhou, Rui Yu, Yan‐Ping Le

J Cell Mol Med. 2005 Oct; 9(4): 961–965. Published online 2007 May 1. doi: 10.1111/j.1582-4934.2005.tb00392.x

PMCID:: PMC6740257

Abstract Article PDF–436K

Select item 616668212.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 586086213.

ELOVL4-Mediated Production of Very Long-Chain Ceramides Stabilizes Tight Junctions and Prevents Diabetes-Induced Retinal Vascular Permeability

Nermin M. Kady, Xuwen Liu, Todd A. Lydic, Meesum H. Syed, Svetlana Navitskaya, Qi Wang, Sandra S. Hammer, Sandra O’Reilly, Chao Huang, Sergey S. Seregin, Andrea Amalfitano, Vince A. Chiodo, Sanford L. Boye, William W. Hauswirth, David A. Antonetti, Julia V. Busik

Diabetes. 2018 Apr; 67(4): 769–781. Published online 2018 Jan 23. doi: 10.2337/db17-1034

PMCID:: PMC5860862

Abstract Article PDF–4.2M

Select item 553161114.

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 464794115.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 461721116.

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 394148217.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Hina Mir, Syed Irfan Raza, Muhammad Touseef, Mazhar Mustafa Memon, Muhammad Nasim Khan, Sulman Jaffar, Wasim Ahmad

BMC Med Genet. 2014; 15: 25. Published online 2014 Feb 26. doi: 10.1186/1471-2350-15-25

PMCID:: PMC3941482

Abstract Article PDF–3.5M

Select item 373686918.

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

Mariaelisa Graff, Julius S. Ngwa, Tsegaselassie Workalemahu, Georg Homuth, Sabine Schipf, Alexander Teumer, Henry Völzke, Henri Wallaschofski, Goncalo R. Abecasis, Lakatta Edward, Cucca Francesco, Serena Sanna, Paul Scheet, David Schlessinger, Carlo Sidore, Xiangjun Xiao, Zhaoming Wang, Stephen J. Chanock, Kevin B. Jacobs, Richard B. Hayes, Frank Hu, Rob M. Van Dam, The GIANT Consortium, Richard J. Crout, Mary L. Marazita, John R Shaffer, Larry D. Atwood, Caroline S. Fox, Nancy L. Heard-Costa, Charles White, Audrey C. Choh, Stefan A. Czerwinski, Ellen W. Demerath, Thomas D. Dyer, Bradford Towne, Najaf Amin, Ben A. Oostra, Cornelia M. Van Duijn, M. Carola Zillikens, Tõnu Esko, Mari Nelis, Tit Nikopensius, Andres Metspalu, David P. Strachan, Keri Monda, Lu Qi, Kari E. North, L. Adrienne Cupples, Penny Gordon-Larsen, Sonja I. Berndt

Hum Mol Genet. 2013 Sep 1; 22(17): 3597–3607. Published online 2013 May 12. doi: 10.1093/hmg/ddt205

PMCID:: PMC3736869

Abstract Article PDF–308K

Select item 370509519.

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

Digna R. Velez Edwards, John R. Gilbert, James E. Hicks, Jamie L. Myers, Lan Jiang, Anna C. Cummings, Shengru Guo, Paul J. Gallins, Ioanna Konidari, Laura Caywood, Lori Reinhart-Mercer, Denise Fuzzell, Claire Knebusch, Renee Laux, Charles E. Jackson, Margaret A. Pericak-Vance, Jonathan L. Haines, William K. Scott

Age (Dordr) 2013 Aug; 35(4): 1467–1477. Published online 2012 Jul 7. doi: 10.1007/s11357-012-9447-1

PMCID:: PMC3705095

Abstract Article PDF–327K

Select item 361927720.

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy

Sreemathi Logan, Martin-Paul Agbaga, Michael D. Chan, Nabila Kabir, Nawajes A. Mandal, Richard S. Brush, Robert E. Anderson

Proc Natl Acad Sci U S A. 2013 Apr 2; 110(14): 5446–5451. Published online 2013 Mar 18. doi: 10.1073/pnas.1217251110

PMCID:: PMC3619277

Abstract Article PDF–713K

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