Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Missense_nonsense-44_Mutations
Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.
Zhang J et al.
International Journal of Molecular Sciences, 2021
Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes.
Del Favero G et al.
Journal of Clinical Medicine, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.
Chi C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Functional performance and muscle strength phenotypes in men and women with Danon disease.
Stevens-Lapsley JE et al.
Muscle & Nerve, 2010
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