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Select item 103567711.

Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution

Matthieu Dos Santos, Akansha M. Shah, Yichi Zhang, Svetlana Bezprozvannaya, Kenian Chen, Lin Xu, Weichun Lin, John R. McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson

Nat Commun. 2023; 14: 4333. Published online 2023 Jul 19. doi: 10.1038/s41467-023-40073-8

PMCID:: PMC10356771

Abstract Article PDF–4.9M

Select item 100013722.

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

Sophie Broadway-Stringer, He Jiang, Kirsty Wadmore, Charlotte Hooper, Gillian Douglas, Violetta Steeples, Amar J. Azad, Evie Singer, Jasmeet S. Reyat, Frantisek Galatik, Elisabeth Ehler, Pauline Bennett, Jacinta I. Kalisch-Smith, Duncan B. Sparrow, Benjamin Davies, Kristina Djinovic-Carugo, Mathias Gautel, Hugh Watkins, Katja Gehmlich

Cells. 2023 Mar; 12(5): 721. Published online 2023 Feb 24. doi: 10.3390/cells12050721

PMCID:: PMC10001372

Abstract Article PDF–2.7M

Select item 92191803.

Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics

Michael Haug, Barbara Reischl, Stefanie Nübler, Leonit Kiriaev, Davi A. G. Mázala, Peter J. Houweling, Kathryn N. North, Oliver Friedrich, Stewart I. Head

Skelet Muscle. 2022; 12: 14. Published online 2022 Jun 23. doi: 10.1186/s13395-022-00295-8

PMCID:: PMC9219180

Abstract Article PDF–4.5M

Select item 90714954.

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching

Leonit Kiriaev, Peter J Houweling, Kathryn N North, Stewart I Head

Hum Mol Genet. 2022 May 1; 31(9): 1417–1429. Published online 2021 Nov 11. doi: 10.1093/hmg/ddab326

PMCID:: PMC9071495

Abstract Article PDF–1.3M

Select item 80084865.

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

Victoria L. Wyckelsma, Tomas Venckunas, Peter J. Houweling, Maja Schlittler, Volker M. Lauschke, Chrystal F. Tiong, Harrison D. Wood, Niklas Ivarsson, Henrikas Paulauskas, Nerijus Eimantas, Daniel C. Andersson, Kathryn N. North, Marius Brazaitis, Håkan Westerblad

Am J Hum Genet. 2021 Mar 4; 108(3): 446–457. Published online 2021 Feb 17. doi: 10.1016/j.ajhg.2021.01.013

PMCID:: PMC8008486

Abstract Article PDF–1.5M

Select item 79387706.

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 79105857.

Maintenance of type 2 glycolytic myofibers with age by Mib1-Actn3 axis

Ji-Yun Seo, Jong-Seol Kang, Ye Lynne Kim, Young-Woo Jo, Ji-Hoon Kim, Sang-Hyeon Hann, Jieon Park, Inkuk Park, Hyerim Park, Kyusang Yoo, Joonwoo Rhee, Jung-Wee Park, Yong Chan Ha, Young-Yun Kong

Nat Commun. 2021; 12: 1294. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21621-6

PMCID:: PMC7910585

Abstract Article PDF–6.9M

Select item 62441838.

Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells

Sunyuan Zhang, Nicholas A. Williamson, Marie A. Bogoyevitch

Sci Data. 2018; 5: 180262. Published online 2018 Nov 20. doi: 10.1038/sdata.2018.262

PMCID:: PMC6244183

Abstract Article PDF–753K

Select item 59867299.

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

Fleur C. Garton, Peter J. Houweling, Damjan Vukcevic, Lyra R. Meehan, Fiona X.Z. Lee, Monkol Lek, Kelly N. Roeszler, Marshall W. Hogarth, Chrystal F. Tiong, Diana Zannino, Nan Yang, Stephen Leslie, Paul Gregorevic, Stewart I. Head, Jane T. Seto, Kathryn N. North

Am J Hum Genet. 2018 May 3; 102(5): 845–857. Published online 2018 Apr 26. doi: 10.1016/j.ajhg.2018.03.009

PMCID:: PMC5986729

Abstract Article PDF–3.0M

Select item 586818110.

CITGeneDB: a comprehensive database of human and mouse genes enhancing or suppressing cold-induced thermogenesis validated by perturbation experiments in mice

Jin Li, Su-Ping Deng, Gang Wei, Peng Yu

Database (Oxford) 2018; 2018: bay012. Published online 2018 Mar 23. doi: 10.1093/database/bay012

PMCID:: PMC5868181

Abstract Article PDF–653K

Select item 550444711.

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

P J Houweling, Y D Berman, N Turner, K G R Quinlan, J T Seto, N Yang, M Lek, D G Macarthur, G Cooney, K N North

Int J Obes (Lond) 2017 Jul; 41(7): 1154–1157. Prepublished online 2017 Mar 15. Published online 2017 Apr 11. doi: 10.1038/ijo.2017.72

PMCID:: PMC5504447

Abstract Article PDF–556K

Select item 529033112.

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Marshall W. Hogarth, Peter J. Houweling, Kristen C. Thomas, Heather Gordish-Dressman, Luca Bello, Cooperative International Neuromuscular Research Group (CINRG), Elena Pegoraro, Eric P. Hoffman, Stewart I. Head, Kathryn N. North

Nat Commun. 2017; 8: 14143. Published online 2017 Jan 31. doi: 10.1038/ncomms14143

PMCID:: PMC5290331

Abstract Article PDF–2.1M

Select item 486898413.

Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice

Xiaofei Cong, Jonathan Doering, Robert W. Grange, Honglin Jiang

Sci Rep. 2016; 6: 26194. Published online 2016 May 17. doi: 10.1038/srep26194

PMCID:: PMC4868984

Abstract Article PDF–1.3M

Select item 475404014.

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

Marshall W. Hogarth, Fleur C. Garton, Peter J. Houweling, Taru Tukiainen, Monkol Lek, Daniel G. Macarthur, Jane T. Seto, Kate G.R. Quinlan, Nan Yang, Stewart I. Head, Kathryn N. North

Hum Mol Genet. 2016 Mar 1; 25(5): 866–877. Published online 2015 Dec 17. doi: 10.1093/hmg/ddv613

PMCID:: PMC4754040

Abstract Article PDF–668K

Select item 429589415.

Altered Ca²⁺ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution

Stewart I. Head, Stephen Chan, Peter J. Houweling, Kate G. R. Quinlan, Robyn Murphy, Sören Wagner, Oliver Friedrich, Kathryn N. North

PLoS Genet. 2015 Jan; 11(1): e1004862. Published online 2015 Jan 15. doi: 10.1371/journal.pgen.1004862

Correction in:: PLoS Genet. 2015 Jun; 11(6): e1005312.

PMCID:: PMC4295894

Abstract Article PDF–2.3M

Select item 392941216.

Sall1 balances self-renewal and differentiation of renal progenitor cells

Jeannine M. Basta, Lynn Robbins, Susan M. Kiefer, Dale Dorsett, Michael Rauchman

Development. 2014 Mar 1; 141(5): 1047–1058. doi: 10.1242/dev.095851

PMCID:: PMC3929412

Abstract Article

Select item 378453217.

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

Jane T. Seto, Kate G.R. Quinlan, Monkol Lek, Xi Fiona Zheng, Fleur Garton, Daniel G. MacArthur, Marshall W. Hogarth, Peter J. Houweling, Paul Gregorevic, Nigel Turner, Gregory J. Cooney, Nan Yang, Kathryn N. North

J Clin Invest. 2013 Oct 1; 123(10): 4255–4263. Published online 2013 Sep 16. doi: 10.1172/JCI67691

PMCID:: PMC3784532

Abstract Article PDF–2.0M

Select item 351402618.

Ubiquitylation by Trim32 causes coupled loss of desmin, Z-bands, and thin filaments in muscle atrophy

Shenhav Cohen, Bo Zhai, Steven P. Gygi, Alfred L. Goldberg

J Cell Biol. 2012 Aug 20; 198(4): 575–589. doi: 10.1083/jcb.201110067

PMCID:: PMC3514026

Abstract Article PDF–2.7M

Select item 336509819.

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

Gayle B. Collin, Jan D. Marshall, Benjamin L. King, Gabriella Milan, Pietro Maffei, Daniel J. Jagger, Jürgen K. Naggert

PLoS One. 2012; 7(5): e37925. Published online 2012 May 31. doi: 10.1371/journal.pone.0037925

PMCID:: PMC3365098

Abstract Article PDF–1.8M

Select item 328866920.

Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis

Paul Delgado-Olguín, Yu Huang, Xue Li, Danos Christodoulou, Christine E. Seidman, J.G. Seidman, Alexander Tarakhovsky, Benoit G. Bruneau

Nat Genet. Author manuscript; available in PMC 2012 Sep 1.

Published in final edited form as: Nat Genet. 2012 Mar; 44(3): 343–347. Published online 2012 Jan 22. doi: 10.1038/ng.1068

PMCID:: PMC3288669

Abstract Article PDF–2.7M

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