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Items: 1 to 20 of 23

1.
High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice
Nneka Southwell, Onorina Manzo, Sandra Bacman, Dazhi Zhao, Nicole M Sayles, Jalia Dash, Keigo Fujita, Marilena D’Aurelio, Annarita Di Lorenzo, Giovanni Manfredi, Hibiki Kawamata
EMBO Mol Med. 2024 Jun; 16(6): 1352–1378. Published online 2024 May 9. doi: 10.1038/s44321-024-00067-5
PMCID:
PMC11178915
AbstractArticlePDF–9.0M
2.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
3.
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature
Mario K Shammas, Yu Nie, Alexandra Gilsrud, Xiaoping Huang, Derek P Narendra, Patrick F Chinnery
Hum Mol Genet. 2024 Jan 1; 33(1): 91–101. Published online 2023 Oct 10. doi: 10.1093/hmg/ddad161
PMCID:
PMC10729859
AbstractArticlePDF–1.6M
4.
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation
Teresa R Kee, Jessica L Wehinger, Pamela Espinoza Gonzalez, Eric Nguyen, Kyle C McGill Percy, Sophia A Khan, Dale Chaput, Xinming Wang, Tian Liu, David E Kang, Jung-A A Woo
Hum Mol Genet. 2022 Dec 1; 31(23): 3987–4005. Published online 2022 Jul 4. doi: 10.1093/hmg/ddac083
PMCID:
PMC9703812
AbstractArticlePDF–2.6M
5.
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy
Mario K. Shammas, Xiaoping Huang, Beverly P. Wu, Evelyn Fessler, Insung Y. Song, Nicholas P. Randolph, Yan Li, Christopher K.E. Bleck, Danielle A. Springer, Carl Fratter, Ines A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos Lopez-Otin, Lucas T. Jae, Joanna Poulton, Derek P. Narendra
J Clin Invest. 2022 Jul 15; 132(14): e157504. Published online 2022 Jul 15. doi: 10.1172/JCI157504
PMCID:
PMC9282932
AbstractArticlePDF–20M
6.
Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy
Nicole M. Sayles, Nneka Southwell, Kevin McAvoy, Kihwan Kim, Alba Pesini, Corey J. Anderson, Catarina Quinzii, Suzanne Cloonan, Hibiki Kawamata, Giovanni Manfredi
Cell Rep. Author manuscript; available in PMC 2022 Apr 16.
Published in final edited form as: Cell Rep. 2022 Mar 8; 38(10): 110475. doi: 10.1016/j.celrep.2022.110475
PMCID:
PMC9013208
AbstractArticlePDF–2.8M
7.
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology
Éanna B. Ryan, Jianhua Yan, Nimrod Miller, Sudarshan Dayanidhi, Yongchao C. Ma, Han-Xiang Deng, Teepu Siddique
iScience. 2021 Feb 19; 24(2): 102061. Published online 2021 Jan 18. doi: 10.1016/j.isci.2021.102061
PMCID:
PMC7890413
AbstractArticlePDF–43M
8.
The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development
Xiayin Zhang, Ruixin Wang, Ting Wang, Xulin Zhang, Meimei Dongye, Dongni Wang, Jinghui Wang, Wangting Li, Xiaohang Wu, Duoru Lin, Haotian Lin
Front Cell Dev Biol. 2020; 8: 625492. Published online 2021 Jan 8. doi: 10.3389/fcell.2020.625492
PMCID:
PMC7820765
AbstractArticlePDF–2.4M
9.
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations
Yi-Ting Liu, Xiaoping Huang, Diana Nguyen, Mario K Shammas, Beverly P Wu, Eszter Dombi, Danielle A Springer, Joanna Poulton, Shiori Sekine, Derek P Narendra
Hum Mol Genet. 2020 Jun 3; 29(9): 1547–1567. Published online 2020 Apr 27. doi: 10.1093/hmg/ddaa077
PMCID:
PMC7268789
AbstractArticlePDF–2.9M
10.
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
Corey J Anderson, Kirsten Bredvik, Suzanne R Burstein, Crystal Davis, Samantha M Meadows, Jalia Dash, Laure Case, Teresa A Milner, Hibiki Kawamata, Aamir Zuberi, Alessandra Piersigilli, Cathleen Lutz, Giovanni Manfredi
Acta Neuropathol. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Acta Neuropathol. 2019 Jul; 138(1): 103–121. Published online 2019 Mar 14. doi: 10.1007/s00401-019-01989-y
PMCID:
PMC6571048
AbstractArticlePDF–2.9M
11.
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
Xiaoping Huang, Beverly P Wu, Diana Nguyen, Yi-Ting Liu, Melika Marani, Jürgen Hench, Paule Bénit, Vera Kozjak-Pavlovic, Pierre Rustin, Stephan Frank, Derek P Narendra
Hum Mol Genet. 2018 Nov 15; 27(22): 3881–3900. Published online 2018 Jul 31. doi: 10.1093/hmg/ddy270
Correction in:
Hum Mol Genet. 2019 Jan 15; 28(2): 349.
PMCID:
PMC6216204
AbstractArticlePDF–68M
12.
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions
S R Burstein, F Valsecchi, H Kawamata, M Bourens, R Zeng, A Zuberi, T A Milner, S M Cloonan, C Lutz, A Barrientos, G Manfredi
Hum Mol Genet. 2018 Jan 1; 27(1): 160–177. Published online 2017 Nov 3. doi: 10.1093/hmg/ddx397
PMCID:
PMC5886281
AbstractArticlePDF–1.9M
13.
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Jung-A. A. Woo, Tian Liu, Courtney Trotter, Cenxiao C. Fang, Emillio De Narvaez, Patrick LePochat, Drew Maslar, Anusha Bukhari, Xingyu Zhao, Andrew Deonarine, Sandy D. Westerheide, David E. Kang
Nat Commun. 2017; 8: 15558. Published online 2017 Jun 6. doi: 10.1038/ncomms15558
PMCID:
PMC5467170
AbstractArticlePDF–3.0M
14.
Nur77 Gene Knockout Alters Dopamine Neuron Biochemical Activity and Dopamine Turnover
François Gilbert, Marc Morissette, Michel St-Hilaire, Brigitte Paquet, Claude Rouillard, Thérèse Di Paolo, Daniel Lévesque
Biol Psychiatry. Author manuscript; available in PMC 2016 Dec 9.
Published in final edited form as: Biol Psychiatry. 2006 Sep 15; 60(6): 538–547. Published online 2006 Aug 7. doi: 10.1016/j.biopsych.2006.04.023
PMCID:
PMC5148625
AbstractArticlePDF–1.4M
15.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
16.
Deterministic and Stochastic Allele Specific Gene Expression in Single Mouse Blastomeres
Fuchou Tang, Catalin Barbacioru, Ellen Nordman, Siqin Bao, Caroline Lee, Xiaohui Wang, Brian B. Tuch, Edith Heard, Kaiqin Lao, M. Azim Surani
PLoS One. 2011; 6(6): e21208. Published online 2011 Jun 23. doi: 10.1371/journal.pone.0021208
PMCID:
PMC3121735
AbstractArticlePDF–1.0M
17.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
18.
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
19.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
20.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M

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