Associated Papers
Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases.
Orgil BO et al.
International Journal of Molecular Sciences, 2025
Overexpression of Wild-Type TMEM43 Improves Cardiac Function in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5.
Lalaguna L et al.
Circulation Research, 2025
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
Zink M et al.
International Journal of Molecular Sciences, 2022
Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.
Gu Q et al.
Physiological Genomics, 2022
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.
Mukai T et al.
Muscle & Nerve, 2019
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
Sun Y et al.
Journal of Neurology, 2019
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H et al.
European Heart Journal, 2015
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Liang WC et al.
Annals of Neurology, 2011
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