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Items: 1 to 20 of 24

1.
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy
Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall Peeler
Ophthalmic Genet. Author manuscript; available in PMC 2021 Jan 13.
Published in final edited form as: Ophthalmic Genet. 2019 Dec; 40(6): 570–573. Published online 2020 Jan 13. doi: 10.1080/13816810.2019.1711428
PMCID:
PMC7050282
AbstractArticlePDF–140K
2.
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A. Gahl, Yair Anikster
Mol Genet Metab. Author manuscript; available in PMC 2011 Jun 1.
Published in final edited form as: Mol Genet Metab. 2010 Jun; 100(2): 149–154. Published online 2010 Mar 16. doi: 10.1016/j.ymgme.2010.03.005
PMCID:
PMC2872056
AbstractArticlePDF–1.2M
3.
Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews
Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg
Am J Hum Genet. 2001 Dec; 69(6): 1218–1224. Published online 2001 Oct 19. doi: 10.1086/324651
PMCID:
PMC1235533
AbstractArticlePDF–249K
4.
Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation
Seung-Wook Ryu, Hyeon Joo Jeong, Myunghwan Choi, Mariusz Karbowski, Chulhee Choi
Cell Mol Life Sci. 2010 Aug; 67(16): 2839–2850. Published online 2010 Apr 8. doi: 10.1007/s00018-010-0365-z
PMCID:
PMC11115811
AbstractArticlePDF–1.1M
5.
Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies
Patrick Yu-Wai-Man, Suma P. Shankar, Valérie Biousse, Neil R. Miller, Lora J.H. Bean, Bradford Coffee, Madhuri Hegde, Nancy J. Newman
Ophthalmology. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Ophthalmology. 2011 Mar; 118(3): 558–563. Published online 2010 Oct 30. doi: 10.1016/j.ophtha.2010.07.029
PMCID:
PMC3044822
AbstractArticlePDF–135K
6.
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M Malinge, J Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthiery, G Lenaers, D Bonneau
J Med Genet. 2004 Sep; 41(9): e110. doi: 10.1136/jmg.2003.016576
PMCID:
PMC1735897
SummaryPDF–241K
7.
Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma
Zheng Yang, Yang Zhang, Xiangdong Wang, Junwei Huang, Wei Guo, Peng Wei, Guojun Li, Ziqiao Wang, Zhigang Huang, Luo Zhang
J Int Med Res. 2019 Jun; 47(6): 2371–2380. Published online 2019 Apr 16. doi: 10.1177/0300060519838385
PMCID:
PMC6567723
AbstractArticlePDF–442K
8.
Genome-wide association study of comorbid depressive syndrome and alcohol dependence
Alexis C. Edwards, Fazil Aliev, Laura J. Bierut, Kathleen K. Bucholz, Howard Edenberg, Victor Hesselbrock, John Kramer, Samuel Kuperman, John I. Nurnberger, Jr., Marc A. Schuckit, Bernice Porjesz, Danielle M. Dick
Psychiatr Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Psychiatr Genet. 2012 Feb; 22(1): 31–41. doi: 10.1097/YPG.0b013e32834acd07
PMCID:
PMC3241912
AbstractArticlePDF–416K
9.
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
10.
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
11.
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
12.
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
13.
DNA Cloning Using In Vitro Site-Specific Recombination
James L. Hartley, Gary F. Temple, Michael A. Brasch
Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000
PMCID:
PMC310948
AbstractArticlePDF–1.7M
14.
Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression
Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien
PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862
PMCID:
PMC2943476
AbstractArticlePDF–461K
15.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
16.
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha
Cell. Author manuscript; available in PMC 2009 Nov 18.
Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016
PMCID:
PMC2778844
AbstractArticlePDF–1.2M
17.
Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells
Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo
Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31
PMCID:
PMC5839158
AbstractArticlePDF–1.9M
18.
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
AbstractArticlePDF–438K
19.
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
AbstractArticlePDF–2.2M
20.
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
AbstractArticlePDF–2.7M

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