Leiomodin 2 neonatal dilated cardiomyopathy mutation results in altered actin gene signatures and cardiomyocyte dysfunction.

Autor: Iwanski JB; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA., Pappas CT; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA., Mayfield RM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA., Farman GP; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA., Ahrens-Nicklas R; Department of Pediatrics and Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Churko JM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA. jchurko@arizona.edu., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ, 85724, USA. carol.gregorio@mssm.edu.; Department of Medicine and Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. carol.gregorio@mssm.edu.

Publikováno v: NPJ Regenerative medicine [NPJ Regen Med] 2024 Sep 16; Vol. 9 (1), pp. 21. Date of Electronic Publication: 2024 Sep 16.

Lmod2 is necessary for effective skeletal muscle contraction.

Autor: Larrinaga TM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85724, USA., Farman GP; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85724, USA., Mayfield RM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85724, USA., Yuen M; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, NSW 2145, Australia., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, NSW 2145, Australia., Pappas CT; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85724, USA., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85724, USA.; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Publikováno v: Science advances [Sci Adv] 2024 Mar 15; Vol. 10 (11), pp. eadk1890. Date of Electronic Publication: 2024 Mar 13.

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Autor: Vasilescu C; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland., Colpan M; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, 85724, USA., Ojala TH; Department of Pediatric Cardiology, Helsinki University Hospital and University of Helsinki, 00290, Helsinki, Finland., Manninen T; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland., Mutka A; Department of Pathology, Helsinki University Hospital and University of Helsinki, 00290, Helsinki, Finland., Ylänen K; Tampere Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University and University Hospital, 33521, Tampere, Finland., Rahkonen O; Department of Pediatric Cardiology, Helsinki University Hospital and University of Helsinki, 00290, Helsinki, Finland., Poutanen T; Tampere Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University and University Hospital, 33521, Tampere, Finland., Martelius L; Department of Pediatric Radiology, Helsinki University Hospital and University of Helsinki, 00290, Helsinki, Finland., Kumari R; HiLIFE Institute of Biotechnology, University of Helsinki, 00014, Helsinki, Finland., Hinterding H; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland., Brilhante V; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland., Ojanen S; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland., Lappalainen P; HiLIFE Institute of Biotechnology, University of Helsinki, 00014, Helsinki, Finland., Koskenvuo J; Blueprint Genetics, 00290, Helsinki, Finland., Carroll CJ; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Molecular and Clinical Sciences, St. George's, University of London, London, United Kingdom., Fowler VM; Department of Biological Sciences, University of Delaware, Newark, DE, 19711, USA., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ, 85724, USA. carol.gregorio@mssm.edu.; Cardiovascular Research Institute, Department of Medicine, Icahn School of Medicine, New York, NY, 10029, USA. carol.gregorio@mssm.edu., Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, University of Helsinki, 00290, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; HUSlab, Helsinki University Hospital, University of Helsinki, 00290, Helsinki, Finland. anu.wartiovaara@helsinki.fi.

Publikováno v: Communications biology [Commun Biol] 2024 Jan 02; Vol. 7 (1), pp. 7. Date of Electronic Publication: 2024 Jan 02.

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

Autor: Sono R; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Larrinaga TM; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA., Huang A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Makhlouf F; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Kang X; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Su J; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Lau R; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Arboleda VA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.; Eli and Edyth Broad Stem Cell Research Center, University of California, Los Angeles, CA 90095, USA., Biniwale R; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Fishbein GA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Khanlou N; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Si MS; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Satou GM; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Halnon N; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Ucla Congenital Heart Defects-BioCore Faculty; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Van Arsdell GS; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, The University of Arizona, Tucson, AZ 85721, USA.; Department of Medicine and Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Nelson S; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Touma M; Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.; Eli and Edyth Broad Stem Cell Research Center, University of California, Los Angeles, CA 90095, USA.; Children's Discovery and Innovation Institute, University of California, Los Angeles, CA 90095, USA.; Cardiovascular Research Laboratories, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

Publikováno v: Cells [Cells] 2023 May 23; Vol. 12 (11). Date of Electronic Publication: 2023 May 23.

Ca ²⁺ attenuates nucleation activity of leiomodin.

Autor: Smith GE; Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA., Tolkatchev D; Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA., Risi C; Department of Physiological Sciences, Eastern Virginia Medical School, Norfolk, Virginia, USA., Little M; Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA., Gregorio CC; Department of Cellular and Molecular Medicine and Sarver Molecular Cardiovascular Research Program, University of Arizona, Tucson, Arizona, USA., Galkin VE; Department of Physiological Sciences, Eastern Virginia Medical School, Norfolk, Virginia, USA., Kostyukova AS; Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.

Publikováno v: Protein science : a publication of the Protein Society [Protein Sci] 2022 Jul; Vol. 31 (7), pp. e4358.