Associated Papers
The ARVC-5-associated protein TMEM43 controls mitochondrial energy metabolism by stabilising ER-mitochondrial contact sites.
Jürgens K et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
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
Modeling of auditory neuropathy spectrum disorders associated with the TEME43 variant reveals impaired gap junction function of iPSC-derived glia-like support cells.
Kang X et al.
Frontiers in Molecular Neuroscience, 2024
Audiogram Configuration, Molecular Etiology, and Outcome of Cochlear Implantation in Postlingual Auditory Neuropathy Spectrum Disorder.
Kim Y et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2023
Recent insights into gap junction biogenesis in the cochlea.
Defourny J et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
Zink M et al.
International Journal of Molecular Sciences, 2022
Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43.
Tang PC et al.
Stem Cell Research, 2022
Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Current Heart Failure Reports, 2021
A Deafness Associated Protein TMEM43 Interacts with KCNK3 (TASK-1) Two-pore Domain K+ (K2P) Channel in the Cochlea.
Jang MW et al.
Experimental Neurobiology, 2021
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