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Select item 86074531.

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

Ann Clin Transl Neurol. 2021 Nov; 8(11): 2155–2165. Published online 2021 Oct 18. doi: 10.1002/acn3.51470

PMCID:: PMC8607453

Article PDF–744K

Select item 69353842.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer

Hum Mol Genet. 2019 Nov 15; 28(22): 3766–3776. Published online 2019 Aug 22. doi: 10.1093/hmg/ddz202

PMCID:: PMC6935384

Article PDF–17M

Select item 42598603.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency

Lorena Marín-Buera, Alberto García-Bartolomé, María Morán, Elia López-Bernardo, Susana Cadenas, Beatriz Hidalgo, Ricardo Sánchez, Sara Seneca, Joaquín Arenas, Miguel A. Martín, Cristina Ugalde

J Proteomics. Author manuscript; available in PMC 2016 Jan 15.

Published in final edited form as: J Proteomics. 2015 Jan 15; 113: 38–56. Published online 2014 Sep 18. doi: 10.1016/j.jprot.2014.09.007

PMCID:: PMC4259860

Article PDF–2.7M

Select item 13775494.

Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.

I Visapää, V Fellman, T Varilo, A Palotie, K O Raivio, L Peltonen

Am J Hum Genet. 1998 Nov; 63(5): 1396–1403. doi: 10.1086/302123

PMCID:: PMC1377549

Summary PDF–451K

Select item 13770945.

The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

J F Lubianca Neto, L Lu, R D Eavey, M A Flores, R M Caldera, S Sangwatanaroj, J J Schott, B McDonough, J I Santos, C E Seidman, J G Seidman

Am J Hum Genet. 1998 May; 62(5): 1107–1112. doi: 10.1086/301837

PMCID:: PMC1377094

Summary PDF–470K

Select item 3785426.

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena Peltonen

Am J Hum Genet. 2002 Oct; 71(4): 863–876. Published online 2002 Sep 5. doi: 10.1086/342773

PMCID:: PMC378542

Article PDF–480K

Select item 4499667.

Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria.

H Fölsch, B Guiard, W Neupert, R A Stuart

EMBO J. 1996 Feb 1; 15(3): 479–487.

PMCID:: PMC449966

Summary Page Browse PDF–2.2M

Select item 84554008.

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster

Michele Brischigliaro, Elena Frigo, Samantha Corrà, Cristiano De Pittà, Ildikò Szabò, Massimo Zeviani, Rodolfo Costa

J Mol Med (Berl) 2021; 99(10): 1471–1485. Published online 2021 Jul 17. doi: 10.1007/s00109-021-02110-1

PMCID:: PMC8455400

Article PDF–9.2M

Select item 60307309.

AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation

Julia Hülsmann, Bojana Kravic, Matthias Weith, Matthias Gstaiger, Ruedi Aebersold, Ben C. Collins, Hemmo Meyer

Mol Cell Proteomics. 2018 Jul; 17(7): 1295–1307. Published online 2018 Mar 29. doi: 10.1074/mcp.RA117.000471

PMCID:: PMC6030730

Article PDF–3.8M

Select item 662002810.

Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality

Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff

Cancer Cell. Author manuscript; available in PMC 2020 May 13.

Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014

PMCID:: PMC6620028

Article PDF–2.9M

Select item 328162811.

Cytoplasmic Metadherin (MTDH) Provides Survival Advantage under Conditions of Stress by Acting as RNA-binding Protein

Xiangbing Meng, Danlin Zhu, Shujie Yang, Xinjun Wang, Zhi Xiong, Yuping Zhang, Pavla Brachova, Kimberly K. Leslie

J Biol Chem. 2012 Feb 10; 287(7): 4485–4491. Published online 2011 Dec 23. doi: 10.1074/jbc.C111.291518

PMCID:: PMC3281628

Article PDF–2.0M

Select item 499245612.

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

Article PDF–1.7M

Select item 555356813.

A role for mitochondrial translation in promotion of viability in K-Ras mutant cells

Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge

Cell Rep. Author manuscript; available in PMC 2017 Aug 11.

Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061

PMCID:: PMC5553568

Article PDF–1.8M

Select item 637572914.

Interactome Rewiring Following Pharmacological Targeting of BET Bromodomains

Jean-Philippe Lambert, Sarah Picaud, Takao Fujisawa, Huayun Hou, Pavel Savitsky, Liis Uusküla-Reimand, Gagan D. Gupta, Hala Abdouni, Zhen-Yuan Lin, Monika Tucholska, James D.R. Knight, Beatriz Gonzalez-Badillo, Nicole St-Denis, Joseph A. Newman, Manuel Stucki, Laurence Pelletier, Nuno Bandeira, Michael D. Wilson, Panagis Filippakopoulos, Anne-Claude Gingras

Mol Cell. 2019 Feb 7; 73(3): 621–638.e17. doi: 10.1016/j.molcel.2018.11.006

PMCID:: PMC6375729

Article PDF–10M

Select item 885704915.

Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration

Tara E. Tracy, Jesus Madero-Pérez, Danielle L. Swaney, Timothy S. Chang, Michelle Moritz, Csaba Konrad, Michael E. Ward, Erica Stevenson, Ruth Hüttenhain, Grant Kauwe, Maria Mercedes, Lauren Sweetland-Martin, Xu Chen, Sue-Ann Mok, Man Ying Wong, Maria Telpoukhovskaia, Sang-Won Min, Chao Wang, Peter Dongmin Sohn, Jordie Martin, Yungui Zhou, Wenjie Luo, John Q. Trojanowski, Virginia M.Y. Lee, Shiaoching Gong, Giovanni Manfredi, Giovanni Coppola, Nevan J. Krogan, Daniel H. Geschwind, Li Gan

Cell. Author manuscript; available in PMC 2022 Feb 19.

Published in final edited form as: Cell. 2022 Feb 17; 185(4): 712–728.e14. Published online 2022 Jan 20. doi: 10.1016/j.cell.2021.12.041

PMCID:: PMC8857049

Article PDF–3.6M

Select item 889438016.

A multi-factor trafficking site on the spliceosome remodeling enzyme BRR2 recruits C9ORF78 to regulate alternative splicing

Alexandra Bergfort, Marco Preußner, Benno Kuropka, İbrahim Avşar Ilik, Tarek Hilal, Gert Weber, Christian Freund, Tuğçe Aktaş, Florian Heyd, Markus C. Wahl

Nat Commun. 2022; 13: 1132. Published online 2022 Mar 3. doi: 10.1038/s41467-022-28754-2

PMCID:: PMC8894380

Article PDF–5.6M

Select item 13914617.

Large-Scale Concatenation cDNA Sequencing

Wei Yu, Björn Andersson, Kim C. Worley, Donna M. Muzny, Yan Ding, Wen Liu, Jennifer Y. Ricafrente, Meredith A. Wentland, Greg Lennon, Richard A. Gibbs

Genome Res. 1997 Apr; 7(4): 353–358. doi: 10.1101/gr.7.4.353

PMCID:: PMC139146

Article PDF–62K

Select item 995018318.

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

Article PDF–2.4M

Select item 488219019.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Article PDF–1.9M

Select item 294347620.

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

Article PDF–461K

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