U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 41

1.
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr, Reinhard Ullmann, Stefan Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner
Am J Hum Genet. 2012 Jan 13; 90(1): 61–68. doi: 10.1016/j.ajhg.2011.11.030
Correction in:
Am J Hum Genet. 2012 Feb 10; 90(2): 378.
PMCID:
PMC3257879
AbstractArticlePDF–544K
2.
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
Nina A Schlipf, Christian Beetz, Rebecca Schüle, Giovanni Stevanin, Anne Kjersti Erichsen, Sylvie Forlani, Cécile Zaros, Kathrin Karle, Stephan Klebe, Sven Klimpe, Alexandra Durr, Susanne Otto, Chantal M E Tallaksen, Olaf Riess, Alexis Brice, Peter Bauer, Ludger Schöls
Eur J Hum Genet. 2010 Sep; 18(9): 1065–1067. Published online 2010 May 12. doi: 10.1038/ejhg.2010.68
PMCID:
PMC2987419
AbstractArticlePDF–219K
3.
Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1
Rodrigo Romero, Francisco J. Sánchez-Rivera, Peter M.K. Westcott, Kim L. Mercer, Arjun Bhutkar, Alexander Muir, Tania J. González-Robles, Swanny A. Lamboy-Rodríguez, Laura Z. Liao, Sheng Rong Ng, Leanne Li, Caterina I. Colón, Santiago Naranjo, Mary Clare Beytagh, Caroline A. Lewis, Peggy P. Hsu, Roderick T. Bronson, Matthew G. Vander Heiden, Tyler Jacks
Nat Cancer. Author manuscript; available in PMC 2021 Aug 18.
Published in final edited form as: Nat Cancer. 2020 Jun; 1(6): 589–602. Published online 2020 Jun 8. doi: 10.1038/s43018-020-0071-1
Correction in:
Nat Cancer. 2020 Sep; 1(9): 935.
PMCID:
PMC8373048
AbstractArticlePDF–3.0M
4.
Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation
Rikki Hullinger, Mi Li, Jingxin Wang, Yajing Peng, James A. Dowell, Ewa Bomba-Warczak, Heather A. Mitchell, Corinna Burger, Edwin R. Chapman, John M. Denu, Lingjun Li, Luigi Puglielli
J Exp Med. 2016 Jun 27; 213(7): 1267–1284. doi: 10.1084/jem.20151776
PMCID:
PMC4925020
AbstractArticlePDF–2.7M
5.
Deficient Import of Acetyl-CoA into the ER Lumen Causes Neurodegeneration and Propensity to Infections, Inflammation, and Cancer
Yajing Peng, Mi Li, Ben D. Clarkson, Mariana Pehar, Patrick J. Lao, Ansel T. Hillmer, Todd E. Barnhart, Bradley T. Christian, Heather A. Mitchell, Barbara B. Bendlin, Matyas Sandor, Luigi Puglielli
J Neurosci. 2014 May 14; 34(20): 6772–6789. doi: 10.1523/JNEUROSCI.0077-14.2014
PMCID:
PMC4019794
AbstractArticlePDF–7.0M
6.
AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability
Mary Cabell Jonas, Mariana Pehar, Luigi Puglielli
J Cell Sci. 2010 Oct 1; 123(19): 3378–3388. Published online 2010 Sep 7. doi: 10.1242/jcs.068841
PMCID:
PMC2939804
AbstractArticle
7.
A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
Pengfei Lin, Jianwei Li, Qiji Liu, Fei Mao, Jisheng Li, Rongfang Qiu, Huili Hu, Yang Song, Yang Yang, Guimin Gao, Chuanzhu Yan, Wanling Yang, Changshun Shao, Yaoqin Gong
Am J Hum Genet. 2008 Dec 12; 83(6): 752–759. Published online 2008 Dec 5. doi: 10.1016/j.ajhg.2008.11.003
PMCID:
PMC2668077
AbstractArticlePDF–1.0M
8.
Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: A putative acetyl-CoA transporter
Akiko Kanamori, Jun Nakayama, Michiko N. Fukuda, William B. Stallcup, Katsutoshi Sasaki, Minoru Fukuda, Yoshio Hirabayashi
Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7): 2897–2902. doi: 10.1073/pnas.94.7.2897
PMCID:
PMC20294
AbstractArticlePDF–433K
9.
Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway
Inca A. Dieterich, Yusi Cui, Megan M. Braun, Alexis J. Lawton, Nicklaus H. Robinson, Jennifer L. Peotter, Qing Yu, Jason C. Casler, Benjamin S. Glick, Anjon Audhya, John M. Denu, Lingjun Li, Luigi Puglielli
Sci Rep. 2021; 11: 2013. Published online 2021 Jan 21. doi: 10.1038/s41598-021-81447-6
PMCID:
PMC7820588
AbstractArticlePDF–11M
10.
SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway
Mariana Pehar, Mary Cabell Jonas, Theresa M. Hare, Luigi Puglielli
J Biol Chem. 2012 Aug 24; 287(35): 29921–29930. Published online 2012 Jul 11. doi: 10.1074/jbc.M112.363911
PMCID:
PMC3436137
AbstractArticlePDF–1.4M
11.
Specific pupylation as IDEntity reporter (SPIDER) for the identification of protein-biomolecule interactions
He-Wei Jiang, Hong Chen, Yun-Xiao Zheng, Xue-Ning Wang, Qingfeng Meng, Jin Xie, Jiong Zhang, ChangSheng Zhang, Zhao-Wei Xu, Zi-Qing Chen, Lei Wang, Wei-Sha Kong, Kuan Zhou, Ming-Liang Ma, Hai-Nan Zhang, Shu-Juan Guo, Jun-Biao Xue, Jing-Li Hou, Zhe-Yi Liu, Wen-Xue Niu, Fang-Jun Wang, Tao Wang, Wei Li, Rui-Na Wang, Yong-Jun Dang, Daniel M. Czajkowsky, JianFeng Pei, Jia-Jia Dong, Sheng-Ce Tao
Sci China Life Sci. 2023 Apr 14 : 1–19. doi: 10.1007/s11427-023-2316-2 [Epub ahead of print]
PMCID:
PMC10103678
AbstractArticlePDF–2.4M
12.
Differential CFTR-Interactome Proximity Labeling Procedures Identify Enrichment in Multiple SLC Transporters
Benoît Chevalier, Nesrine Baatallah, Matthieu Najm, Solène Castanier, Vincent Jung, Iwona Pranke, Anita Golec, Véronique Stoven, Stefano Marullo, Fabrice Antigny, Ida Chiara Guerrera, Isabelle Sermet-Gaudelus, Aleksander Edelman, Alexandre Hinzpeter
Int J Mol Sci. 2022 Aug; 23(16): 8937. Published online 2022 Aug 11. doi: 10.3390/ijms23168937
PMCID:
PMC9408702
AbstractArticlePDF–3.5M
13.
Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress
Jiaojiao Yu, Tao Li, Yu Liu, Xi Wang, Jianchao Zhang, Xi'e Wang, Guizhi Shi, Jizhong Lou, Likun Wang, Chih‐chen Wang, Lei Wang
EMBO J. 2020 May 18; 39(10): e103841. Published online 2020 Mar 9. doi: 10.15252/embj.2019103841
PMCID:
PMC7232009
AbstractArticlePDF–5.5M
14.
The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion
M Swayampakula, P C McDonald, M Vallejo, E Coyaud, S C Chafe, A Westerback, G Venkateswaran, J Shankar, G Gao, E M N Laurent, Y Lou, K L Bennewith, C T Supuran, I R Nabi, B Raught, S Dedhar
Oncogene. 2017 Nov 9; 36(45): 6244–6261. Published online 2017 Jul 10. doi: 10.1038/onc.2017.219
PMCID:
PMC5684442
AbstractArticlePDF–4.4M
15.
Spatial proteomics reveal that the protein phosphatase PTP1B interacts with and may modify tyrosine phosphorylation of the rhomboid protease RHBDL4
Kyojiro N. Ikeda, Matthew Freeman
J Biol Chem. 2019 Jul 26; 294(30): 11486–11497. Published online 2019 Jun 7. doi: 10.1074/jbc.RA118.007074
PMCID:
PMC6663880
AbstractArticlePDF–2.0M
16.
Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol. Author manuscript; available in PMC 2017 Sep 20.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
AbstractArticlePDF–3.4M
17.
Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network
Rebecca Elizabeth Kattan, Han Han, Gayoung Seo, Bing Yang, Yongqi Lin, Max Dotson, Stephanie Pham, Yahya Menely, Wenqi Wang
Mol Cell Proteomics. 2022 Feb; 21(2): 100195. Published online 2022 Jan 8. doi: 10.1016/j.mcpro.2022.100195
PMCID:
PMC8864472
AbstractArticlePDF–3.6M
18.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen, Zhen-Yuan Lin, Hanish Anand, Anne-Claude Gingras, Julien Prudent, Eric A Shoubridge
Life Sci Alliance. 2024 Jan; 7(1): e202302335. Published online 2023 Nov 6. doi: 10.26508/lsa.202302335
PMCID:
PMC10627786
AbstractArticlePDF–5.2M
19.
CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system
Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar
Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629
PMCID:
PMC8842165
AbstractArticlePDF–3.0M
20.
Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability
Hema Adhikari, Christopher M. Counter
Nat Commun. 2018; 9: 3646. Published online 2018 Sep 7. doi: 10.1038/s41467-018-05692-6
PMCID:
PMC6128905
AbstractArticlePDF–2.2M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center