Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction

(2020) Peter Marstrand et al.   CIRCULATION

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

(2020) Joel Salazar-Mendiguchía et al.   HEART

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

(2020) Massimiliano Lorenzini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

MuRF1/TRIM63, Master Regulator of Muscle Mass

(2020) Dulce Peris-Moreno et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants

(2020) John Jorholt et al.   Genes

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

(2020) et al.   CIRCULATION

Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort

(2020) Hisham Ahamed et al.   Scientific Reports

Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients

(2019) Yuta Higashikuse et al.   Disease Models & Mechanisms

Hypertrophic cardiomyopathy: genetics and clinical perspectives

(2019) Cordula Maria Wolf   Cardiovascular Diagnosis and Therapy

Hypertrophic Cardiomyopathy: An Overview of Genetics and Management

(2019) Polakit Teekakirikul et al.   Biomolecules

Small Molecule Modulators of RING-Type E3 Ligases: MDM and Cullin Families as Targets

(2018) Emil Bulatov et al.   Frontiers in Pharmacology

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

A muscle-specific MuRF1-E2 network requires stabilization of MuRF1-E2 complexes by telethonin, a newly identified substrate

(2017) Cécile Polge et al.   Journal of Cachexia Sarcopenia and Muscle

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

(2015) Montse Olivé et al.   HUMAN MOLECULAR GENETICS

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Muscle-Specific RING Finger 1 Negatively Regulates Pathological Cardiac Hypertrophy Through Downregulation of Calcineurin A

(2014) Yasuhiro Maejima et al.   Circulation-Heart Failure

A straightforward guide to the sarcomeric basis of cardiomyopathies

(2014) Luís R Lopes et al.   HEART

Rare Variants in Genes Encoding MuRF1 and MuRF2 Are Modifiers of Hypertrophic Cardiomyopathy

(2014) Ming Su et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Human Molecular Genetic and Functional Studies Identify TRIM63 , Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy

(2012) Suet Nee Chen et al.   CIRCULATION RESEARCH

Muscle actin is polyubiquitinylated in vitro and in vivo and targeted for breakdown by the E3 ligase MuRF1

(2011) Cécile Polge et al.   FASEB JOURNAL

Restrictive Physiology is Associated With Poor Outcomes in Children With Hypertrophic Cardiomyopathy

(2011) Shiraz A. Maskatia et al.   PEDIATRIC CARDIOLOGY

Cardiac Muscle Ring Finger-1 Increases Susceptibility to Heart Failure In Vivo

(2009) Monte S. Willis et al.   CIRCULATION RESEARCH