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Select item 112126411.

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization

Rui Lois Tan, Francesca Sciandra, Wolfgang Hübner, Manuela Bozzi, Jens Reimann, Susanne Schoch, Andrea Brancaccio, Sandra Blaess

Dis Model Mech. 2024 Jun 1; 17(6): dmm050594. Published online 2024 Jun 18. doi: 10.1242/dmm.050594

PMCID:: PMC11212641

Abstract Article

Select item 109176602.

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

Abstract Article PDF–4.8M

Select item 95651553.

Constitutive assembly of Ca²⁺ entry units in soleus muscle from calsequestrin knockout mice

Antonio Michelucci, Laura Pietrangelo, Giorgia Rastelli, Feliciano Protasi, Robert T. Dirksen, Simona Boncompagni

J Gen Physiol. 2022 Dec 5; 154(12): e202213114. Published online 2022 Oct 12. doi: 10.1085/jgp.202213114

PMCID:: PMC9565155

Abstract Article PDF–4.4M

Select item 94067604.

Oxygen Consumption and Basal Metabolic Rate as Markers of Susceptibility to Malignant Hyperthermia and Heat Stroke

Matteo Serano, Laura Pietrangelo, Cecilia Paolini, Flavia A. Guarnier, Feliciano Protasi

Cells. 2022 Aug; 11(16): 2468. Published online 2022 Aug 9. doi: 10.3390/cells11162468

PMCID:: PMC9406760

Abstract Article PDF–2.6M

Select item 89860705.

Critical role of Znhit1 for postnatal heart function and vacuolar cardiomyopathy

Yingchao Shi, Wenli Fan, Mingjie Xu, Xinhua Lin, Wukui Zhao, Zhongzhou Yang

JCI Insight. 2022 Mar 22; 7(6): e148752. Published online 2022 Mar 22. doi: 10.1172/jci.insight.148752

PMCID:: PMC8986070

Abstract Article PDF–3.0M

Select item 86163666.

Calsequestrin 1 Is an Active Partner of Stromal Interaction Molecule 2 in Skeletal Muscle

Seung Yeon Jeong, Mi Ri Oh, Jun Hee Choi, Jin Seok Woo, Eun Hui Lee

Cells. 2021 Nov; 10(11): 2821. Published online 2021 Oct 20. doi: 10.3390/cells10112821

PMCID:: PMC8616366

Abstract Article PDF–2.9M

Select item 81383277.

Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation

Amy D. Hanna, Chang Seok Lee, Lyle Babcock, Hui Wang, Joseph Recio, Susan L. Hamilton

FASEB J. Author manuscript; available in PMC 2022 May 1.

Published in final edited form as: FASEB J. 2021 May; 35(5): e21349. doi: 10.1096/fj.202001653RR

PMCID:: PMC8138327

Abstract Article PDF–4.4M

Select item 74327228.

Calsequestrin Deletion Facilitates Hippocampal Synaptic Plasticity and Spatial Learning in Post-Natal Development

Patrizia Ambrogini, Davide Lattanzi, Michael Di Palma, Caterina Ciacci, David Savelli, Claudia Galati, Anna Maria Gioacchini, Laura Pietrangelo, Luciana Vallorani, Feliciano Protasi, Riccardo Cuppini

Int J Mol Sci. 2020 Aug; 21(15): 5473. Published online 2020 Jul 31. doi: 10.3390/ijms21155473

PMCID:: PMC7432722

Abstract Article PDF–2.4M

Select item 59032049.

Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress

Flávia Alessandra Guarnier, Antonio Michelucci, Matteo Serano, Laura Pietrangelo, Claudia Pecorai, Simona Boncompagni, Feliciano Protasi

Oxid Med Cell Longev. 2018; 2018: 4652480. Published online 2018 Apr 3. doi: 10.1155/2018/4652480

PMCID:: PMC5903204

Abstract Article PDF–3.9M

Select item 551856410.

MED12 regulates a transcriptional network of calcium-handling genes in the heart

Kedryn K. Baskin, Catherine A. Makarewich, Susan M. DeLeon, Wenduo Ye, Beibei Chen, Nadine Beetz, Heinrich Schrewe, Rhonda Bassel-Duby, Eric N. Olson

JCI Insight. 2017 Jul 20; 2(14): e91920. Published online 2017 Jul 20. doi: 10.1172/jci.insight.91920

PMCID:: PMC5518564

Abstract Article PDF–3.2M

Select item 550370411.

Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia

Antonio Michelucci, Cecilia Paolini, Simona Boncompagni, Marta Canato, Carlo Reggiani, Feliciano Protasi

FASEB J. 2017 Aug; 31(8): 3649–3662. Published online 2017 May 2. doi: 10.1096/fj.201601292R

PMCID:: PMC5503704

Abstract Article

Select item 529582112.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 527847013.

Calsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle

Carlo Manno, Lourdes C. Figueroa, Dirk Gillespie, Robert Fitts, ChulHee Kang, Clara Franzini-Armstrong, Eduardo Rios

Proc Natl Acad Sci U S A. 2017 Jan 24; 114(4): E638–E647. Published online 2017 Jan 9. doi: 10.1073/pnas.1620265114

PMCID:: PMC5278470

Abstract Article PDF–2.0M

Select item 498269314.

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

Daniel Dilg, Rasha Noureldin M. Saleh, Sarah Elizabeth Lee Phelps, Yoann Rose, Laurent Dupays, Cian Murphy, Timothy Mohun, Robert H. Anderson, Peter J. Scambler, Ariane L. A. Chapgier

PLoS One. 2016; 11(8): e0161096. Published online 2016 Aug 12. doi: 10.1371/journal.pone.0161096

PMCID:: PMC4982693

Abstract Article PDF–18M

Select item 493817715.

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles

Barbara Mosca, Jan Eckhardt, Leda Bergamelli, Susan Treves, Rossana Bongianino, Marco De Negri, Silvia G. Priori, Feliciano Protasi, Francesco Zorzato

J Biol Chem. 2016 Jul 8; 291(28): 14555–14565. Published online 2016 May 4. doi: 10.1074/jbc.M115.709071

Correction in:: J Biol Chem. 2016 Sep 23; 291(39): 20824.

PMCID:: PMC4938177

Abstract Article PDF–1.9M

Select item 485605716.

Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice

Barbara Mosca, Osvaldo Delbono, Maria Laura Messi, Leda Bergamelli, Zhong-Min Wang, Mirko Vukcevic, Ruben Lopez, Susan Treves, Miyuki Nishi, Hiroshi Takeshima, Cecilia Paolini, Marta Martini, Giorgio Rispoli, Feliciano Protasi, Francesco Zorzato

Nat Commun. Author manuscript; available in PMC 2016 May 4.

Published in final edited form as: Nat Commun. 2013; 4: 1541. doi: 10.1038/ncomms2496