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Select item 92598721.

Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome

Lilli Winter, Monika Kustermann, Büsra Ernhofer, Harald Höger, Reginald E Bittner, Wolfgang M Schmidt

Life Sci Alliance. 2022 Nov; 5(11): e202201367. Published online 2022 Jul 5. doi: 10.26508/lsa.202201367

PMCID:: PMC9259872

Abstract Article PDF–3.1M

Select item 89240352.

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations

Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Klaudia González-Imaz, Pablo Marco-Moreno, Gorka Gerenu, Kamel Mamchaoui, Vincent Mouly, Adolfo López de Munain, Ainara Vallejo-Illarramendi

Front Cell Dev Biol. 2022; 10: 822563. Published online 2022 Mar 2. doi: 10.3389/fcell.2022.822563

PMCID:: PMC8924035

Abstract Article PDF–1.9M

Select item 79387703.

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 77307984.

Mitochondrial dysfunction and consequences in calpain-3-deficient muscle

Vanessa E. Jahnke, Jennifer M. Peterson, Jack H. Van Der Meulen, Jessica Boehler, Kitipong Uaesoontrachoon, Helen K. Johnston, Aurelia Defour, Aditi Phadke, Qing Yu, Jyoti K. Jaiswal, Kanneboyina Nagaraju

Skelet Muscle. 2020; 10: 37. Published online 2020 Dec 11. doi: 10.1186/s13395-020-00254-1

PMCID:: PMC7730798

Abstract Article PDF–2.8M

Select item 76595555.

A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy

Jian Liu, Jesus Campagna, Varghese John, Robert Damoiseaux, Ekaterina Mokhonova, Diana Becerra, Huan Meng, Elizabeth M. McNally, April D. Pyle, Irina Kramerova, Melissa J. Spencer

Cell Rep Med. 2020 Oct 20; 1(7): 100122. Published online 2020 Oct 20. doi: 10.1016/j.xcrm.2020.100122

PMCID:: PMC7659555

Abstract Article PDF–2.4M

Select item 74897606.

Developing fluorescence sensor probe to capture activated muscle-specific calpain-3 (CAPN3) in living muscle cells

Koichi Ojima, Shoji Hata, Fumiko Shinkai-Ouchi, Mika Oe, Susumu Muroya, Hiroyuki Sorimachi, Yasuko Ono

Biol Open. 2020 Sep 15; 9(9): bio048975. Published online 2020 Sep 4. doi: 10.1242/bio.048975

PMCID:: PMC7489760

Abstract Article PDF–2.0M

Select item 74874157.

Dystrophin Is Required for the Proper Timing in Retinal Histogenesis: A Thorough Investigation on the mdx Mouse Model of Duchenne Muscular Dystrophy

Irene Persiconi, Francesca Cosmi, Noemi Antonella Guadagno, Giuseppe Lupo, Maria Egle De Stefano

Front Neurosci. 2020; 14: 760. Published online 2020 Aug 31. doi: 10.3389/fnins.2020.00760

PMCID:: PMC7487415

Abstract Article PDF–14M

Select item 73975298.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, John Edward Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbeck, Ralph Knöll, Jack-Yves Deschamps, Henk Granzier, Isabelle Richard

Sci Transl Med. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Sci Transl Med. 2019 Nov 27; 11(520): eaat6072. doi: 10.1126/scitranslmed.aat6072

PMCID:: PMC7397529

Abstract Article PDF–2.9M

Select item 72458719.

Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz

Orphanet J Rare Dis. 2020; 15: 119. Published online 2020 May 24. doi: 10.1186/s13023-020-01372-1

PMCID:: PMC7245871

Abstract Article PDF–2.8M

Select item 692351110.

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Tuhin K. Guha, Christophe Pichavant, Michele P. Calos

Mol Ther Methods Clin Dev. 2019 Dec 13; 15: 294–304. Published online 2019 Oct 14. doi: 10.1016/j.omtm.2019.10.002

PMCID:: PMC6923511

Abstract Article PDF–1.4M

Select item 619212111.

Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis

Takae Kiyama, Ching-Kang Chen, Steven W Wang, Ping Pan, Zhenlin Ju, Jing Wang, Shinako Takada, William H Klein, Chai-An Mao

Mol Neurodegener. 2018; 13: 56. Published online 2018 Oct 17. doi: 10.1186/s13024-018-0287-z

PMCID:: PMC6192121

Abstract Article PDF–12M

Select item 590563312.

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy

Irina Kramerova, Jorge A Torres, Ascia Eskin, Stanley F Nelson, Melissa J Spencer

Hum Mol Genet. 2018 May 1; 27(9): 1642–1653. Published online 2018 Mar 8. doi: 10.1093/hmg/ddy071

PMCID:: PMC5905633

Abstract Article PDF–745K

Select item 573105713.

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

Mehmet E. Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A. Hussain, Kimberly M. Shontz, Chrystal L. Montgomery, Kevin M. Flanigan, Sarah Lewis, Zarife Sahenk

Skelet Muscle. 2017; 7: 27. Published online 2017 Dec 14. doi: 10.1186/s13395-017-0146-6

PMCID:: PMC5731057

Abstract Article PDF–2.1M

Select item 508105014.

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)

Irina Kramerova, Natalia Ermolova, Ascia Eskin, Andrea Hevener, Oswald Quehenberger, Aaron M. Armando, Ronald Haller, Nadine Romain, Stanley F. Nelson, Melissa J. Spencer

Hum Mol Genet. 2016 Jun 1; 25(11): 2194–2207. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw086

PMCID:: PMC5081050

Abstract Article PDF–991K

Select item 483621215.

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle

Ivan Toral-Ojeda, Garazi Aldanondo, Jaione Lasa-Elgarresta, Haizpea Lasa-Fernández, Roberto Fernández-Torrón, Adolfo López de Munain, Ainara Vallejo-Illarramendi

Expert Rev Mol Med. 2016; 18: e7. Published online 2016 Apr 8. doi: 10.1017/erm.2016.9

PMCID:: PMC4836212

Abstract Article PDF–3.1M

Select item 452749116.

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies

Jérémy Rouillon, Jérôme Poupiot, Aleksandar Zocevic, Fatima Amor, Thibaut Léger, Camille Garcia, Jean-Michel Camadro, Brenda Wong, Robin Pinilla, Jérémie Cosette, Anna M.L. Coenen-Stass, Graham Mcclorey, Thomas C. Roberts, Matthew J.A. Wood, Laurent Servais, Bjarne Udd, Thomas Voit, Isabelle Richard, Fedor Svinartchouk

Hum Mol Genet. 2015 Sep 1; 24(17): 4916–4932. Published online 2015 Jun 9. doi: 10.1093/hmg/ddv214

PMCID:: PMC4527491

Abstract Article PDF–834K

Select item 429452617.

Autolytic Activation of Calpain 3 Proteinase Is Facilitated by Calmodulin Protein

Natalia Ermolova, Irina Kramerova, Melissa J. Spencer

J Biol Chem. 2015 Jan 9; 290(2): 996–1004. Published online 2014 Nov 11. doi: 10.1074/jbc.M114.588780

PMCID:: PMC4294526

Abstract Article PDF–1.3M

Select item 382427818.

Crybb2 coding for βB2-crystallin affects sensorimotor gating and hippocampal function

Minxuan Sun, Sabine M. Hölter, Jens Stepan, Lillian Garrett, Just Genius, Elisabeth Kremmer, Martin Hrabě de Angelis, Wolfgang Wurst, D. Chichung Lie, Laure Bally-Cuif, Matthias Eder, Dan Rujescu, Jochen Graw

Mamm Genome. 2013; 24(9): 333–348. Published online 2013 Oct 6. doi: 10.1007/s00335-013-9478-7

PMCID:: PMC3824278

Abstract Article PDF–978K

Select item 353670319.

Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

Mariaelena Pistoni, Lily Shiue, Melissa S. Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Jr., Davide Gabellini

PLoS Genet. 2013 Jan; 9(1): e1003186. Published online 2013 Jan 3. doi: 10.1371/journal.pgen.1003186

PMCID:: PMC3536703

Abstract Article PDF–2.2M

Select item 349191720.

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

I. Kramerova, E. Kudryashova, N. Ermolova, A. Saenz, O. Jaka, A. López de Munain, M.J. Spencer

Hum Mol Genet. 2012 Jul 15; 21(14): 3193–3204. Published online 2012 Apr 14. doi: 10.1093/hmg/dds144

PMCID:: PMC3491917

Abstract Article PDF–563K

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