Literature DB >> 34405687

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation.

Steven P Gygi1, Christine E Seidman2,3,4, J G Seidman2, Radhika Agarwal2, Joao A Paulo1, Christopher N Toepfer2,5,6, Jourdan K Ewoldt7, Subramanian Sundaram7,8, Anant Chopra7,8, Qi Zhang2, Joshua Gorham2, Steven R DePalma2, Christopher S Chen7,8.   

Abstract

[Figure: see text].

Entities:  

Keywords:  cardiomyopathies; filamin; induced pluripotent stem cell; lysosome; sarcomere

Mesh：

Substances：

Year:  2021        PMID： 34405687      PMCID： PMC9053646          DOI： 10.1161/CIRCRESAHA.120.317076

Source DB:  PubMed          Journal:  Circ Res        ISSN： 0009-7330            Impact factor:   23.213


  64 in total

1.  Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources.

Authors:  Da Wei Huang; Brad T Sherman; Richard A Lempicki
Journal:  Nat Protoc       Date:  2009       Impact factor: 13.491

Review 2.  Endoplasmic reticulum stress sensing in the unfolded protein response.

Authors:  Brooke M Gardner; David Pincus; Katja Gotthardt; Ciara M Gallagher; Peter Walter
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-03-01       Impact factor: 10.005

3.  Differentiation and Contractile Analysis of GFP-Sarcomere Reporter hiPSC-Cardiomyocytes.

Authors:  Arun Sharma; Christopher N Toepfer; Manuel Schmid; Amanda C Garfinkel; Christine E Seidman
Journal:  Curr Protoc Hum Genet       Date:  2018-01-24

Review 4.  Cellular quality control by the ubiquitin-proteasome system and autophagy.

Authors:  Christian Pohl; Ivan Dikic
Journal:  Science       Date:  2019-11-14       Impact factor: 47.728

5.  A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Authors:  Matthias Vorgerd; Peter F M van der Ven; Vera Bruchertseifer; Thomas Löwe; Rudolf A Kley; Rolf Schröder; Hanns Lochmüller; Mirko Himmel; Katrin Koehler; Dieter O Fürst; Angela Huebner
Journal:  Am J Hum Genet       Date:  2005-05-31       Impact factor: 11.025

Review 6.  CRISPR/Cas9-Directed Genome Editing of Cultured Cells.

Authors:  Luhan Yang; Joyce L Yang; Susan Byrne; Joshua Pan; George M Church
Journal:  Curr Protoc Mol Biol       Date:  2014-07-01

Review 7.  Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.

Authors:  Stacey Peters; Saurabh Kumar; Perry Elliott; Jonathan M Kalman; Diane Fatkin
Journal:  Heart Lung Circ       Date:  2018-10-11       Impact factor: 2.975

8.  Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/β-catenin signaling under fully defined conditions.

Authors:  Xiaojun Lian; Jianhua Zhang; Samira M Azarin; Kexian Zhu; Laurie B Hazeltine; Xiaoping Bao; Cheston Hsiao; Timothy J Kamp; Sean P Palecek
Journal:  Nat Protoc       Date:  2012-12-20       Impact factor: 13.491

Review 9.  Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Authors:  Kae Won Cho; Jongsung Lee; Youngjo Kim
Journal:  Mol Cells       Date:  2016-10-31       Impact factor: 5.034

10.  Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.

Authors:  Sibylle Molt; John B Bührdel; Sergiy Yakovlev; Peter Schein; Zacharias Orfanos; Gregor Kirfel; Lilli Winter; Gerhard Wiche; Peter F M van der Ven; Wolfgang Rottbauer; Steffen Just; Alexey M Belkin; Dieter O Fürst
Journal:  J Cell Sci       Date:  2014-06-24       Impact factor: 5.285
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  5 in total

Review 1.  Emerging Genotype-Phenotype Associations in Dilated Cardiomyopathy.

Authors:  Joyce N Njoroge; Jennifer C Mangena; Chiaka Aribeana; Victoria N Parikh
Journal:  Curr Cardiol Rep       Date:  2022-07-28       Impact factor: 3.955

Review 2.  A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.

Authors:  Vivek Sarohi; Shriya Srivastava; Trayambak Basak
Journal:  J Cardiovasc Dev Dis       Date:  2022-06-01

3.  ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.

Authors:  Antonia T L Zech; Maksymilian Prondzynski; Sonia R Singh; Niels Pietsch; Ellen Orthey; Erda Alizoti; Josefine Busch; Alexandra Madsen; Charlotta S Behrens; Moritz Meyer-Jens; Giulia Mearini; Marc D Lemoine; Elisabeth Krämer; Diogo Mosqueira; Sanamjeet Virdi; Daniela Indenbirken; Maren Depke; Manuela Gesell Salazar; Uwe Völker; Ingke Braren; William T Pu; Thomas Eschenhagen; Elke Hammer; Saskia Schlossarek; Lucie Carrier
Journal:  Cells       Date:  2022-09-02       Impact factor: 7.666

Review 4.  Biochemical Pathways of Cellular Mechanosensing/Mechanotransduction and Their Role in Neurodegenerative Diseases Pathogenesis.

Authors:  Ilaria Tortorella; Chiara Argentati; Carla Emiliani; Francesco Morena; Sabata Martino
Journal:  Cells       Date:  2022-10-01       Impact factor: 7.666

5.  Subcellular Remodeling in Filamin C Deficient Mouse Hearts Impairs Myocyte Tension Development during Progression of Dilated Cardiomyopathy.

Authors:  Joseph D Powers; Natalie J Kirkland; Canzhao Liu; Swithin S Razu; Xi Fang; Adam J Engler; Ju Chen; Andrew D McCulloch
Journal:  Int J Mol Sci       Date:  2022-01-14       Impact factor: 6.208
  5 in total

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