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Select item 107180611.

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review

Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu

J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633

PMCID:: PMC10718061

Abstract Article PDF–613K

Select item 82064042.

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Bobby G. Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Mathieu Fiore, Stuart M. Haslam, Yohann Huguenin, Tadahiro Kumagai, Michael Kulik, Katherine McGoogan, Caroline Michot, Deborah A. Nickerson, Tiffany Pascreau, Delphine Borgel, Kimiyo Raymond, Deepti Warad, University of Washington Center for Mendelian Genomics (UW-CMG), Heather Flanagan-Steet, Richard Steet, Michael Tiemeyer, Nathalie Seta, Arnaud Bruneel, Hudson H. Freeze

Am J Hum Genet. 2021 Jun 3; 108(6): 1040–1052. Published online 2021 May 7. doi: 10.1016/j.ajhg.2021.04.013

PMCID:: PMC8206404

Abstract Article PDF–2.2M

Select item 79634123.

A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis

Qianyun Xu, Haiyan Tang, Liping Duan, Xiaoxia Zuo, Xiaoliu Shi, Yisha Li, Hongjun Zhao, Huali Zhang

Mol Genet Genomic Med. 2021 Jan; 9(1): e1568. Published online 2020 Dec 5. doi: 10.1002/mgg3.1568

PMCID:: PMC7963412

Abstract Article PDF–562K

Select item 69950484.

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi

Orphanet J Rare Dis. 2020; 15: 35. Published online 2020 Jan 31. doi: 10.1186/s13023-019-1266-3

PMCID:: PMC6995048

Abstract Article PDF–1.5M

Select item 53390995.

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Rihwa Choi, Hyung-Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe

Ann Lab Med. 2017 May; 37(3): 261–266. Published online 2017 Feb 17. doi: 10.3343/alm.2017.37.3.261

PMCID:: PMC5339099

Abstract Article PDF–238K

Select item 38731806.

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner

Genet Mol Biol. 2013 Dec; 36(4): 502–506. Published online 2013 Nov 8. doi: 10.1590/S1415-47572013000400007

PMCID:: PMC3873180

Abstract Article PDF–749K

Select item 30992547.

Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib

Chi-Jiunn Pan, Shih-Yin Chen, Soojung Lee, Janice Y. Chou

Mol Genet Metab. Author manuscript; available in PMC 2011 May 23.

Published in final edited form as: Mol Genet Metab. 2009 Jan; 96(1): 32–37. Published online 2008 Nov 12. doi: 10.1016/j.ymgme.2008.10.005

PMCID:: PMC3099254

Abstract Article PDF–411K

Select item 18548468.

Necrosis Induction in Glioblastoma Cells Reveals a New “Bioswitch” Function for the MT1-MMP/G6PT Signaling Axis in proMMP-2 Activation versus Cell Death Decision

Anissa Belkaid, Simon Fortier, Jian Cao, Borhane Annabi

Neoplasia. 2007 Apr; 9(4): 332–340. doi: 10.1593/neo.07142

PMCID:: PMC1854846

Abstract Article PDF–408K

Select item 13775009.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

M Veiga-da-Cunha, I Gerin, Y T Chen, T de Barsy, P de Lonlay, C Dionisi-Vici, C D Fenske, P J Lee, J V Leonard, I Maire, A McConkie-Rosell, S Schweitzer, M Vikkula, E Van Schaftingen

Am J Hum Genet. 1998 Oct; 63(4): 976–983. doi: 10.1086/302068

PMCID:: PMC1377500

Summary PDF–1.0M

Select item 105127110.

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

C D Fenske, S Jeffery, J L Weber, R S Houlston, J V Leonard, P J Lee

J Med Genet. 1998 Apr; 35(4): 269–272. doi: 10.1136/jmg.35.4.269

PMCID:: PMC1051271

Summary Page Browse PDF–614K

Select item 137690211.

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

B Annabi, H Hiraiwa, B C Mansfield, K J Lei, T Ubagai, M H Polymeropoulos, S W Moses, R Parvari, E Hershkovitz, H Mandel, M Fryman, J Y Chou

Am J Hum Genet. 1998 Feb; 62(2): 400–405. doi: 10.1086/301727

PMCID:: PMC1376902

Summary PDF–261K

Select item 317676412.

SLC37A1 and SLC37A2 Are Phosphate-Linked, Glucose-6-Phosphate Antiporters

Chi-Jiunn Pan, Shih-Yin Chen, Hyun Sik Jun, Su Ru Lin, Brian C. Mansfield, Janice Y. Chou

PLoS One. 2011; 6(9): e23157. Published online 2011 Sep 20. doi: 10.1371/journal.pone.0023157

PMCID:: PMC3176764

Abstract Article PDF–582K

Select item 322964113.

Image-Based Genome-Wide siRNA Screen Identifies Selective Autophagy Factors

Anthony Orvedahl, Rhea Sumpter, Jr., Guanghua Xiao, Aylwin Ng, Zhongju Zou, Yi Tang, Masahiro Narimatsu, Christopher Gilpin, Qihua Sun, Michael Roth, Christian V. Forst, Jeffrey L. Wrana, Ying E. Zhang, Katherine Luby-Phelps, Ramnik Xavier, Yang Xie, Beth Levine

Nature. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Nature. 2011 Dec 1; 480(7375): 113–117. doi: 10.1038/nature10546

PMCID:: PMC3229641

Abstract Article PDF–2.3M

Select item 537173014.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 923162315.

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 464794116.

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 508937417.

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

Abstract Article PDF–1.5M

Select item 659455118.

PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling

Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin

Cell Rep. Author manuscript; available in PMC 2019 Jun 26.

Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060

PMCID:: PMC6594551

Abstract Article PDF–1.4M

Select item 911973619.

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

Abstract Article PDF–3.3M

Select item 135612920.

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

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