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Select item 102089581.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh

Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5

PMCID:: PMC10208958

Abstract Article PDF–7.0M

Select item 94819332.

ALS-linked loss of Cyclin-F function affects HSP90

Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends

Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359

PMCID:: PMC9481933

Abstract Article PDF–3.5M

Select item 86109743.

Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation

Rin Khang, Areum Jo, Hojin Kang, Hanna Kim, Eunsang Kwag, Ji-Yeong Lee, Okjae Koo, Jinsu Park, Hark Kyun Kim, Dong-Gyu Jo, Inwoo Hwang, Jee-Yin Ahn, Yunjong Lee, Jeong-Yun Choi, Yun-Song Lee, Joo-Ho Shin

Sci Rep. 2021; 11: 22745. Published online 2021 Nov 23. doi: 10.1038/s41598-021-02218-x

PMCID:: PMC8610974

Abstract Article PDF–2.5M

Select item 79387704.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 68751715.

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

Barbara Bettegazzi, Ilaria Pelizzoni, Floramarida Salerno Scarzella, Lisa Michelle Restelli, Daniele Zacchetti, Francesca Maltecca, Giorgio Casari, Fabio Grohovaz, Franca Codazzi

Oxid Med Cell Longev. 2019; 2019: 4721950. Published online 2019 Oct 31. doi: 10.1155/2019/4721950

PMCID:: PMC6875171

Abstract Article PDF–1.3M

Select item 66780426.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca

J Med Genet. 2019 Aug; 56(8): 499–511. Published online 2019 Mar 25. doi: 10.1136/jmedgenet-2018-105766

PMCID:: PMC6678042

Abstract Article PDF–7.6M

Select item 66706887.

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

Francesca Maltecca, Asadollah Aghaie, David G. Schroeder, Laura Cassina, Benjamin A. Taylor, Sandra J. Phillips, Mariachiara Malaguti, Stefano Previtali, Jean-Louis Guénet, Angelo Quattrini, Gregory A. Cox, Giorgio Casari

J Neurosci. 2008 Mar 12; 28(11): 2827–2836. doi: 10.1523/JNEUROSCI.4677-07.2008

PMCID:: PMC6670688

Abstract Article PDF–914K

Select item 66655568.

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

Francesca Maltecca, Raffaella Magnoni, Federica Cerri, Gregory A. Cox, Angelo Quattrini, Giorgio Casari

J Neurosci. 2009 Jul 22; 29(29): 9244–9254. doi: 10.1523/JNEUROSCI.1532-09.2009

PMCID:: PMC6665556

Abstract Article PDF–3.4M

Select item 66181149.

Astrocyte‐specific deletion of the mitochondrial m‐AAA protease reveals glial contribution to neurodegeneration

Sara Murru, Simon Hess, Esther Barth, Eva R. Almajan, Désirée Schatton, Steffen Hermans, Susanne Brodesser, Thomas Langer, Peter Kloppenburg, Elena I. Rugarli

Glia. 2019 Aug; 67(8): 1526–1541. Published online 2019 Apr 16. doi: 10.1002/glia.23626

PMCID:: PMC6618114

Abstract Article PDF–17M

Select item 655472310.

Interactome Analysis Reveals Regulator of G Protein Signaling 14 (RGS14) is a Novel Calcium/Calmodulin (Ca²⁺/CaM) and CaM Kinase II (CaMKII) Binding Partner

Paul R. Evans, Kyle J. Gerber, Eric B. Dammer, Duc M. Duong, Devrishi Goswami, Daniel J. Lustberg, Juan Zou, Jenny J. Yang, Serena M. Dudek, Patrick R. Griffin, Nicholas T. Seyfried, John R. Hepler

J Proteome Res. Author manuscript; available in PMC 2019 Jun 7.

Published in final edited form as: J Proteome Res. 2018 Apr 6; 17(4): 1700–1711. Published online 2018 Mar 20. doi: 10.1021/acs.jproteome.8b00027

PMCID:: PMC6554723

Abstract Article PDF–2.0M

Select item 538122611.

Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function

Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang

Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626

PMCID:: PMC5381226

Abstract Article PDF–1.4M

Select item 513503412.

The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying

Shuaiyu Wang, Julie Jacquemyn, Sara Murru, Paola Martinelli, Esther Barth, Thomas Langer, Carien M. Niessen, Elena I. Rugarli

PLoS Genet. 2016 Dec; 12(12): e1006463. Published online 2016 Dec 2. doi: 10.1371/journal.pgen.1006463

PMCID:: PMC5135034

Abstract Article PDF–4.2M

Select item 504520013.

Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury

Yong Wu, Fan-Yan Wei, Layla Kawarada, Takeo Suzuki, Kimi Araki, Yoshihiro Komohara, Atsushi Fujimura, Taku Kaitsuka, Motohiro Takeya, Yuichi Oike, Tsutomu Suzuki, Kazuhito Tomizawa

PLoS Genet. 2016 Sep; 12(9): e1006355. Published online 2016 Sep 30. doi: 10.1371/journal.pgen.1006355

PMCID:: PMC5045200

Abstract Article PDF–2.9M

Select item 462182914.

Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness

Uwe Richter, Taina Lahtinen, Paula Marttinen, Fumi Suomi, Brendan J. Battersby

J Cell Biol. 2015 Oct 26; 211(2): 373–389. doi: 10.1083/jcb.201504062

PMCID:: PMC4621829

Abstract Article PDF–3.1M

Select item 438223415.

Purkinje neuron Ca²⁺ influx reduction rescues ataxia in SCA28 model

Francesca Maltecca, Elisa Baseggio, Francesco Consolato, Davide Mazza, Paola Podini, Samuel M. Young, Jr., Ilaria Drago, Ben A. Bahr, Aldamaria Puliti, Franca Codazzi, Angelo Quattrini, Giorgio Casari

J Clin Invest. 2015 Jan 2; 125(1): 263–274. Published online 2014 Dec 8. doi: 10.1172/JCI74770

PMCID:: PMC4382234

Abstract Article PDF–5.4M

Select item 419393416.

Loss of the m-AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation

Arun Kumar Kondadi, Shuaiyu Wang, Sara Montagner, Nikolay Kladt, Anne Korwitz, Paola Martinelli, David Herholz, Michael J Baker, Astrid C Schauss, Thomas Langer, Elena I Rugarli

EMBO J. 2014 May 2; 33(9): 1011–1026. Published online 2014 Mar 28. doi: 10.1002/embj.201387009

PMCID:: PMC4193934

Abstract Article PDF–8.0M

Select item 357241017.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 348445818.

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

Eva R. Almajan, Ricarda Richter, Lars Paeger, Paola Martinelli, Esther Barth, Thorsten Decker, Nils-Göran Larsson, Peter Kloppenburg, Thomas Langer, Elena I. Rugarli

J Clin Invest. 2012 Nov 1; 122(11): 4048–4058. Published online 2012 Oct 8. doi: 10.1172/JCI64604

PMCID:: PMC3484458

Abstract Article PDF–6.3M

Select item 341238319.

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

Francesca Maltecca, Diego De Stefani, Laura Cassina, Francesco Consolato, Michal Wasilewski, Luca Scorrano, Rosario Rizzuto, Giorgio Casari

Hum Mol Genet. 2012 Sep 1; 21(17): 3858–3870. Published online 2012 Jun 7. doi: 10.1093/hmg/dds214

PMCID:: PMC3412383

Abstract Article PDF–562K

Select item 317805920.

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

Abstract Article PDF–1.0M

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