PMC Links for Gene (Select 29929) - PMC

Select item 108165421.

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant

Elisha Monson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Malgorzata Swider, Vivian Wu, Iryna Viarbitskaya, Samuel G. Jacobson, Steven J. Fliesler, Steven J. Pittler

Int J Mol Sci. 2024 Jan; 25(2): 1004. Published online 2024 Jan 13. doi: 10.3390/ijms25021004

PMCID:: PMC10816542

Article PDF–1.8M

Select item 32657702.

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene

Sandra Supraha Goreta, Sanja Dabelic, Dinko Pavlinic, Gordan Lauc, Jerka Dumic

Genet Test Mol Biomarkers. 2012 Jan; 16(1): 50–53. doi: 10.1089/gtmb.2011.0093

PMCID:: PMC3265770

Article PDF–209K

Select item 5089253.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

P Burda, L Borsig, J de Rijk-van Andel, R Wevers, J Jaeken, H Carchon, E G Berger, M Aebi

J Clin Invest. 1998 Aug 15; 102(4): 647–652. doi: 10.1172/JCI2266

PMCID:: PMC508925

Summary PDF–209K

Select item 237594.

Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man₉GlcNAc₂-PP-dolichyl glucosyltransferase

Christian Körner, Roland Knauer, Ulrike Holzbach, Folker Hanefeld, Ludwig Lehle, Kurt von Figura

Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22): 13200–13205. doi: 10.1073/pnas.95.22.13200

PMCID:: PMC23759

Article PDF–260K

Select item 18857885.

Reduced Heparan Sulfate Accumulation in Enterocytes Contributes to Protein-Losing Enteropathy in a Congenital Disorder of Glycosylation

Vibeke Westphal, Simon Murch, Soohyun Kim, Geetha Srikrishna, Bryan Winchester, Richard Day, Hudson H. Freeze

Am J Pathol. 2000 Dec; 157(6): 1917–1925. doi: 10.1016/S0002-9440(10)64830-4

PMCID:: PMC1885788

Article PDF–685K

Select item 17347296.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J Saudubray, V Cormier-Daire

J Med Genet. 2001 Jan; 38(1): 14–19. doi: 10.1136/jmg.38.1.14

PMCID:: PMC1734729

Summary PDF–197K

Select item 220307.

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

Timo Imbach, Patricie Burda, Peter Kuhnert, Ron A. Wevers, Markus Aebi, Eric G. Berger, Thierry Hennet

Proc Natl Acad Sci U S A. 1999 Jun 8; 96(12): 6982–6987. doi: 10.1073/pnas.96.12.6982

PMCID:: PMC22030

Article PDF–265K

Select item 67096358.

Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6

Brianna E. Talbot, David H. Vandorpe, Brian R. Stotter, Seth L. Alper, Johannes S. Schlondorff

J Biol Chem. 2019 Aug 23; 294(34): 12655–12669. Published online 2019 Jul 2. doi: 10.1074/jbc.RA119.008299

PMCID:: PMC6709635

Article PDF–2.5M

Select item 92316239.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Article PDF–6.0M

Select item 756688110.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Article PDF–4.8M

Select item 508937411.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Article PDF–1.5M

Select item 835296412.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Article PDF–4.5M

Select item 889702213.

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

Article PDF–3.0M

Select item 911973614.

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

Article PDF–3.3M

Select item 461721115.

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

Article PDF–2.2M

Select item 553161116.

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

Article PDF–2.7M

Select item 816503017.

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