[Figure: see text].
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http://dx.doi.org/10.1161/CIRCRESAHA.121.319579 | DOI Listing |
Genes (Basel)
June 2022
Research Platform Degenerative Diseases, German Primate Center-Leibniz Institute for Primate Research, 37077 Göttingen, Germany.
Non-ischemic dilated cardiomyopathy (DCM) is one of the most frequent pathologies requiring cardiac transplants. Even though the etiology of this disease is complex, frameshift mutations in the giant sarcomeric protein Titin could explain up to 25% of the familial and 18% of the sporadic cases of DCM. Many studies have shown the potential of genome editing using CRISPR/Cas9 to correct truncating mutations in sarcomeric proteins and have established the grounds for myoediting.
View Article and Find Full Text PDFCirc Res
September 2021
Department of Molecular Biology (A.A., A.C.C., M.C., Z.W., T.N., R.B.-D., E.N.O.), University of Texas Southwestern Medical Center, Dallas, TX.
[Figure: see text].
View Article and Find Full Text PDFProc Natl Acad Sci U S A
June 2021
Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390;
Recent advances in gene editing technologies are enabling the potential correction of devastating monogenic disorders through elimination of underlying genetic mutations. Duchenne muscular dystrophy (DMD) is an especially severe genetic disorder caused by mutations in the gene encoding dystrophin, a membrane-associated protein required for maintenance of muscle structure and function. Patients with DMD succumb to loss of mobility early in life, culminating in premature death from cardiac and respiratory failure.
View Article and Find Full Text PDFSci Adv
January 2018
Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Genome editing with CRISPR/Cas9 is a promising new approach for correcting or mitigating disease-causing mutations. Duchenne muscular dystrophy (DMD) is associated with lethal degeneration of cardiac and skeletal muscle caused by more than 3000 different mutations in the X-linked dystrophin gene (). Most of these mutations are clustered in "hotspots.
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