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Items: 1 to 20 of 36

1.
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
BMC Med Genet. 2019; 20: 62. Published online 2019 Apr 8. doi: 10.1186/s12881-019-0795-x
PMCID:
PMC6454730
AbstractArticlePDF–5.3M
2.
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
Julie Désir, Frauke Coppieters, Nicole Van Regemorter, Elfride De Baere, Marc Abramowicz, Monique Cordonnier
Mol Vis. 2012; 18: 1849–1857. Published online 2012 Jul 5.
PMCID:
PMC3398502
AbstractArticlePDF–4.2M
3.
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
Esther Meyer, Michel Michaelides, Louise J. Tee, Anthony G. Robson, Fatimah Rahman, Shanaz Pasha, Linda M. Luxon, Anthony T. Moore, Eamonn R. Maher
Mol Vis. 2010; 16: 650–664. Published online 2010 Apr 13.
PMCID:
PMC2855733
AbstractArticlePDF–2.6M
4.
Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria
Sabine Poerschke, Silke Oeljeklaus, Luis Daniel Cruz-Zaragoza, Alexander Schenzielorz, Drishan Dahal, Hauke Sven Hillen, Hirak Das, Laura Sophie Kremer, Anusha Valpadashi, Mirjam Breuer, Johannes Sattmann, Ricarda Richter-Dennerlein, Bettina Warscheid, Sven Dennerlein, Peter Rehling
Mol Cell. 2024 Jan 18; 84(2): 345–358.e5. doi: 10.1016/j.molcel.2023.12.013
PMCID:
PMC10805001
AbstractArticle
5.
Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
Luke E. Formosa, Boris Reljic, Alice J. Sharpe, Daniella H. Hock, Linden Muellner-Wong, David A. Stroud, Michael T. Ryan
Proc Natl Acad Sci U S A. 2021 Apr 27; 118(17): e2019665118. Published online 2021 Apr 20. doi: 10.1073/pnas.2019665118
PMCID:
PMC8092609
AbstractArticlePDF–1.1M
6.
TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre, Dominique Chretien, Nathalie Delphin, Lucas Fares-Taie, Sahran Lachheb, Agnès Rotig, Françoise Meire, Arnold Munnich, Jean-Louis Dufier, Josseline Kaplan, Jean-Michel Rozet
Am J Hum Genet. 2009 Apr 10; 84(4): 493–498. doi: 10.1016/j.ajhg.2009.03.003
PMCID:
PMC2667974
AbstractArticlePDF–1.0M
7.
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate
Luigi D’Angelo, Elisa Astro, Monica De Luise, Ivana Kurelac, Nikkitha Umesh-Ganesh, Shujing Ding, Ian M. Fearnley, Giuseppe Gasparre, Massimo Zeviani, Anna Maria Porcelli, Erika Fernandez-Vizarra, Luisa Iommarini
Cell Rep. 2021 Apr 20; 35(3): 109002. Published online 2021 Apr 21. doi: 10.1016/j.celrep.2021.109002
PMCID:
PMC8076766
AbstractArticle
8.
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
Karol Estrada, Michael Krawczak, Stefan Schreiber, Kate van Duijn, Lisette Stolk, Joyce B.J. van Meurs, Fan Liu, Brenda W.J.H. Penninx, Jan H. Smit, Nicole Vogelzangs, Jouke Jan Hottenga, Gonneke Willemsen, Eco J.C. de Geus, Mattias Lorentzon, Huberta von Eller-Eberstein, Paul Lips, Natascha Schoor, Victor Pop, Jules de Keijzer, Albert Hofman, Yurii S. Aulchenko, Ben A. Oostra, Claes Ohlsson, Dorret I. Boomsma, Andre G. Uitterlinden, Cornelia M. van Duijn, Fernando Rivadeneira, Manfred Kayser
Hum Mol Genet. 2009 Sep 15; 18(18): 3516–3524. Published online 2009 Jul 1. doi: 10.1093/hmg/ddp296
PMCID:
PMC2729669
AbstractArticlePDF–242K
9.
DELTEX2 C-terminal domain recognizes and recruits ADP-ribosylated proteins for ubiquitination
Syed Feroj Ahmed, Lori Buetow, Mads Gabrielsen, Sergio Lilla, Chatrin Chatrin, Gary J. Sibbet, Sara Zanivan, Danny T. Huang
Sci Adv. 2020 Aug; 6(34): eabc0629. Published online 2020 Aug 21. doi: 10.1126/sciadv.abc0629
PMCID:
PMC7442474
AbstractArticlePDF–2.4M
10.
Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation
Bethany Mason, Susanne Flach, Felipe R. Teixeira, Raquel Manzano Garcia, Oscar M. Rueda, Jean E. Abraham, Carlos Caldas, Paul A. W. Edwards, Heike Laman
Cell Mol Life Sci. 2020 Jul; 77(13): 2605–2620. Published online 2019 Sep 27. doi: 10.1007/s00018-019-03306-y
PMCID:
PMC7320043
AbstractArticlePDF–2.5M
11.
Energy stress-induced lncRNA FILNC1 represses c-Myc-mediated energy metabolism and inhibits renal tumor development
Zhen-Dong Xiao, Leng Han, Hyemin Lee, Li Zhuang, Yilei Zhang, Joelle Baddour, Deepak Nagrath, Christopher G. Wood, Jian Gu, Xifeng Wu, Han Liang, Boyi Gan
Nat Commun. 2017; 8: 783. Published online 2017 Oct 4. doi: 10.1038/s41467-017-00902-z
PMCID:
PMC5627275
AbstractArticlePDF–1.1M
12.
TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination
Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan
Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911
PMCID:
PMC7392491
AbstractArticlePDF–14M
13.
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
14.
The ubiquitin-dependent ATPase p97 removes cytotoxic trapped PARP1 from chromatin
Dragomir B. Krastev, Shudong Li, Yilun Sun, Andrew J. Wicks, Gwendoline Hoslett, Daniel Weekes, Luned M. Badder, Eleanor G. Knight, Rebecca Marlow, Mercedes Calvo Pardo, Lu Yu, Tanaji T. Talele, Jiri Bartek, Jyoti S. Choudhary, Yves Pommier, Stephen J. Pettitt, Andrew N. J. Tutt, Kristijan Ramadan, Christopher J. Lord
Nat Cell Biol. 2022; 24(1): 62–73. Published online 2022 Jan 10. doi: 10.1038/s41556-021-00807-6
PMCID:
PMC8760077
AbstractArticlePDF–12M
15.
Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function
Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini
Mol Cell. Author manuscript; available in PMC 2017 Aug 18.
Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033
PMCID:
PMC4992456
AbstractArticlePDF–1.7M
16.
Unbiased Profiling of the Human Proinsulin Biosynthetic Interaction Network Reveals a Role for Peroxiredoxin 4 in Proinsulin Folding
Duc T. Tran, Anita Pottekat, Saiful A. Mir, Salvatore Loguercio, Insook Jang, Alexandre Rosa Campos, Kathleen M. Scully, Reyhaneh Lahmy, Ming Liu, Peter Arvan, William E. Balch, Randal J. Kaufman, Pamela Itkin-Ansari
Diabetes. 2020 Aug; 69(8): 1723–1734. Published online 2020 May 26. doi: 10.2337/db20-0245
PMCID:
PMC7372081
AbstractArticlePDF–2.0M
17.
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
AbstractArticlePDF–375K
18.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3
PMCID:
PMC9950183
AbstractArticlePDF–2.4M
19.
The LIFEdb database in 2006
Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann
Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139
PMCID:
PMC1347501
AbstractArticlePDF–301K
20.
From ORFeome to Biology: A Functional Genomics Pipeline
Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka
Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704
PMCID:
PMC528930
AbstractArticlePDF–459K

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