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Items: 1 to 20 of 35

1.
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone
Int J Mol Sci. 2023 Dec; 24(24): 17388. Published online 2023 Dec 12. doi: 10.3390/ijms242417388
PMCID:
PMC10744227
AbstractArticlePDF–10M
2.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
Nichole M. Stettner, David J. Cutler, Judith L. Fridovich-Keil
Mol Genet Metab. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107542. Published online 2023 Feb 21. doi: 10.1016/j.ymgme.2023.107542
PMCID:
PMC10133179
AbstractArticlePDF–94K
3.
A Multinational Study of Acute and Long-term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C>T) Variant of GALT
Quinton Katler, Karolina M. Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T. Berry, Annet M. Bosch, Angela De La O, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M Estela Rubio-Gozalbo, Michael Saad-Naguib, Sabine Scholl-Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich-Keil
J Inherit Metab Dis. Author manuscript; available in PMC 2023 Nov 1.
Published in final edited form as: J Inherit Metab Dis. 2022 Nov; 45(6): 1106–1117. Published online 2022 Sep 26. doi: 10.1002/jimd.12556
PMCID:
PMC9643640
AbstractArticlePDF–527K
4.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
5.
Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions
Anna Verdino, Gaetano D’Urso, Carmen Tammone, Bernardina Scafuri, Anna Marabotti
Molecules. 2021 Oct; 26(19): 5941. Published online 2021 Sep 30. doi: 10.3390/molecules26195941
PMCID:
PMC8513031
AbstractArticlePDF–2.9M
6.
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
AbstractArticlePDF–2.2M
7.
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
AbstractArticlePDF–5.4M
8.
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
9.
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase
Thomas J. McCorvie, Jolanta Kopec, Angel L. Pey, Fiona Fitzpatrick, Dipali Patel, Rod Chalk, Leela Shrestha, Wyatt W. Yue
Hum Mol Genet. 2016 Jun 1; 25(11): 2234–2244. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw091
PMCID:
PMC5081055
AbstractArticlePDF–1.5M
10.
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
11.
Functional correction by antisense therapy of a splicing mutation in the GALT gene
Ana I Coelho, Sílvia Lourenço, Matilde Trabuco, Maria João Silva, Anabela Oliveira, Ana Gaspar, Luísa Diogo, Isabel Tavares de Almeida, João B Vicente, Isabel Rivera
Eur J Hum Genet. 2015 Apr; 23(4): 500–506. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.149
PMCID:
PMC4666580
AbstractArticlePDF–760K
12.
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
AbstractArticle
13.
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
14.
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia
Ying Liu, Alpa Sidhu, Lora H. Bean, Robert L. Conway, Judith Fridovich-Keil
Clin Chim Acta. Author manuscript; available in PMC 2016 Jun 15.
Published in final edited form as: Clin Chim Acta. 2015 Jun 15; 446: 171–174. Published online 2015 Apr 25. doi: 10.1016/j.cca.2015.04.030
PMCID:
PMC4449829
AbstractArticlePDF–1.2M
15.
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal
Cell. Author manuscript; available in PMC 2016 Apr 23.
Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013
PMCID:
PMC4441215
AbstractArticlePDF–1.2M
16.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
17.
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity
Rihwa Choi, Kyoung Il Jo, Dae-Hyun Ko, Dong Hwan Lee, Junghan Song, Dong-Kyu Jin, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Yong-Wha Lee, Hyung-Doo Park
BMC Med Genet. 2014; 15: 94. Published online 2014 Aug 15. doi: 10.1186/s12881-014-0094-5
PMCID:
PMC4236512
AbstractArticlePDF–294K
18.
Modifiers of Ovarian Function in Girls and Women With Classic Galactosemia
Jessica B. Spencer, Jennifer R. Badik, Emily L. Ryan, Tyler J. Gleason, K. Alaine Broadaway, Michael P. Epstein, Judith L. Fridovich-Keil
J Clin Endocrinol Metab. 2013 Jul; 98(7): E1257–E1265. Published online 2013 May 20. doi: 10.1210/jc.2013-1374
PMCID:
PMC3701263
AbstractArticle
19.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
Thomas J McCorvie, Tyler J Gleason, Judith L Fridovich-Keil, David J Timson
Biochim Biophys Acta. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Biochim Biophys Acta. 2013 Aug; 1832(8): 1279–1293. Published online 2013 Apr 11. doi: 10.1016/j.bbadis.2013.04.004
PMCID:
PMC3679265
AbstractArticlePDF–4.9M
20.
Duarte GALT genotypes are not associated with ovarian cancer risk
Melissa A. Merritt, Joanne Kotsopoulos, Daniel W. Cramer, Susan E. Hankinson, Kathryn L. Terry, Shelley S. Tworoger
Fertil Steril. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Fertil Steril. 2012 Sep; 98(3): 687–691. Published online 2012 Jun 29. doi: 10.1016/j.fertnstert.2012.05.045
PMCID:
PMC3432739
AbstractArticlePDF–292K

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