PMC Links for GEO Profiles (Select 22698889) - PMC

Select item 93785121.

Functional Validation Of Novel Variants In B4GALNT1 Associated With Early-Onset Complex Hereditary Spastic Paraplegia With Impaired Ganglioside Synthesis

Julian E. Alecu, Yuhsuke Ohmi, Robiul H. Bhuiyan, Kei-ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sharma, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Mariko Kambe, Keiko Furukawa, Mustafa Sahin, Jin-ichi Inokuchi, Koichi Furakawa, Darius Ebrahimi-Fakhari

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Sep; 188(9): 2590–2598. Published online 2022 Jul 1. doi: 10.1002/ajmg.a.62880

PMCID:: PMC9378512

Abstract Article PDF–663K

Select item 92316232.

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

Abstract Article PDF–6.0M

Select item 81650303.

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 69851104.

B4GALNT1 induces angiogenesis, anchorage independence growth and motility, and promotes tumorigenesis in melanoma by induction of ganglioside GM2/GD2

Hideki Yoshida, Lisa Koodie, Kari Jacobsen, Ken Hanzawa, Yasuhide Miyamoto, Masato Yamamoto

Sci Rep. 2020; 10: 1199. Published online 2020 Jan 27. doi: 10.1038/s41598-019-57130-2

Correction in:: Sci Rep. 2020; 10: 17255.

PMCID:: PMC6985110

Abstract Article PDF–1.9M

Select item 63413955.

Elevated histone H3 acetylation and loss of the Sp1–HDAC1 complex de-repress the GM2-synthase gene in renal cell carcinoma

Avisek Banerjee, Barun Mahata, Arjun Dhir, Tapan Kumar Mandal, Kaushik Biswas

J Biol Chem. 2019 Jan 18; 294(3): 1005–1018. Published online 2018 Nov 21. doi: 10.1074/jbc.RA118.004485

PMCID:: PMC6341395

Abstract Article PDF–2.7M

Select item 56785816.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 55316117.

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 46172118.

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 38592179.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry Chioza, Emma L. Baple, Reza Maroofian, Harold Cross, Ajith Sreekantan-Nair, David A. Priestman, Saeed Al-Turki, Meriel E. McEntagart, Christos Proukakis, Louise Royle, Radoslaw P. Kozak, Laila Bastaki, Michael Patton, Karin Wagner, Roselyn Coblentz, Joy Price, Michelle Mezei, Kamilla Schlade-Bartusiak, Frances M. Platt, Matthew E. Hurles, Andrew H. Crosby

Brain. 2013 Dec; 136(12): 3618–3624. Published online 2013 Oct 6. doi: 10.1093/brain/awt270

PMCID:: PMC3859217

Abstract Article PDF–641K

Select item 371075310.

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Jr., Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin

Am J Hum Genet. 2013 Jul 11; 93(1): 118–123. doi: 10.1016/j.ajhg.2013.05.006

PMCID:: PMC3710753

Abstract Article PDF–1.4M

Select item 317805911.

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 304655512.

Molecular Upstaging Based on Paraffin-embedded Sentinel Lymph Nodes: Ten-Year Follow-up Confirms Prognostic Utility in Melanoma Patients

Michael B. Nicholl, David Elashoff, Hiroya Takeuchi, Donald L. Morton, Dave S. B. Hoon

Ann Surg. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Ann Surg. 2011 Jan; 253(1): 116–122. doi: 10.1097/SLA.0b013e3181fca894

PMCID:: PMC3046555

Abstract Article PDF–434K

Select item 173592013.

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14

P Wilkinson, M Simpson, L Bastaki, H Patel, J Reed, K Kalidas, E Samilchuk, R Khan, T Warner, A Crosby

J Med Genet. 2005 Jan; 42(1): 80–82. doi: 10.1136/jmg.2004.020172

PMCID:: PMC1735920

Summary PDF–127K

Select item 135612914.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 122050415.

GA2/GM2/GD2 synthase localizes to the trans-golgi network of CHO-K1 cells.

C G Giraudo, V M Rosales Fritz, H J Maccioni

Biochem J. 1999 Sep 15; 342(Pt 3): 633–640.

PMCID:: PMC1220504

Summary PDF–246K

Select item 13924116.

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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