Recent Publications

Logo of commbiolCatalina Vasilescu, Mert Colpan, Tiina H Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J Carroll, Velia M Fowler, Carol C Gregorio, Anu Suomalainen

Recessive TMOD1 mutation causes childhood cardiomyopathy

Communications Biology - Nature 2024, January 2.

Link

Cells | An Open Access Journal from MDPIReiri Sono, Tania M Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A Arboleda, Reshma Biniwale, Gregory A Fishbein, Negar Khanlou, Ming-Sing Si, Gary M Satou, Nancy Halnon, Ucla Congenital Heart Defects-BioCore Faculty, Glen S Van Arsdell, Carol C Gregorio, Stanly Nelson, Marlin Touma

 

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy

Cells - MDPI 2023, May 23.

Link

National Academy of Sciences (NAS) | The National Academies Press Lauren E Schultz, Mert Colpan, Garry E Smith Jr, Rachel M Mayfield, Tania M Larrinaga, Alla S Kostyukova, Carol C Gregorio

A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin

Proceedings of the National Academy of Sciences USA 2023, Nov 21.

Link

Ambulatory Blood Pressure Can Best Predict Cognitive Decline - UConn TodayMiensheng Chu, Stefanie Mares Novak, Cathleen Cover, Anne A Wang, Ikeotunye Royal Chinyere, Elizabeth B Juneman, Daniela C Zarnescu, Pak Kin Wong, Carol C Gregorio

Increased Cardiac Arrhythmogenesis Associated With Gap Junction Remodeling With Upregulation of RNA-Binding Protein FXR1

Circulation - AHA 2023, Feb 6.

Link

European Journal of Human Genetics (@ejhg_journal) / X

Yuen M, Worgan L, Iwanski J, Pappas CT, Joshi H, Churko JM, Arbuckle S, Kirk EP, Zhu Y, Roscioli T, Gregorio CC, Cooper ST

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

European Journal of Human Genetics 2022, Jan 26.

Link

Trends Cell Biology (@TrendsCellBio) / X   Jessika Iwanski, Carol C Gregorio, Mert Colpan

Redefining actin dynamics of the pointed-end complex in striated muscle 

Trends in Cell Biology 2021, Jul 12.

Link

Logo of commbiol

Mert Colpan, Jessika Iwanski, and Carol C. Gregorio

CAP2 is a regulator of actin pointed end dynamics and myofibrillogenesis in cardiac muscle 

Communications Biology - Nature 2021, March 19.

Link

PLOS BiologyDmitri Tolkatchev, Garry E. Smith, Jr., Lauren E. Schultz, Mert Colpan, Gregory L. Helms, Carol C. Gregorio, Alla S. Kostyukova

Leiomodin creates a leaky cap at the pointed end of actin-thin filaments

PLoS Biology 2020, Sep 8.

Link

Science Advances (@ScienceAdvances) / X Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. 

Science Advances 2019, Sep 04.

Link

National Academy of Sciences (NAS) | The National Academies Press  Christopher T Pappas, Rachel M Mayfield, Christine Henderson, Nima Jamilpour, Cathleen Cover, Zachary Hernandez, Kirk R Hutchinson, Miensheng Chu, Ki-Hwan Nam, Jose M Valdez, Pak Kin Wong, Henk L Granzier, Carol C Gregorio

Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality

Proceedings of the National Academy of Sciences USA 2015, Nov 3.

Link

JCI - Welcome

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

The Journal of Clinical Investigation 2015, Jan 2.

Link

nature (@Nature) / X

C C Gregorio, A Weber, M Bondad, C R Pennise, V M Fowler

Requirement of pointed-end capping by tropomodulin to maintain actin filament length in embryonic chick cardiac myocytes

Nature 1995, Sep 7.

Link