Functional analysis in stable H9c2 cardiomyoblast cell lines demonstrated significantly reduced MFN2 mutant protein expression, extensive mitochondrial clustering and fragmentation, suggesting a significant correlation with the pathogenesis of DCM.
The first functional characterization of the cardiomyopathy-associated SMYD1 N101S variant identified in a child with severe infantile cardiomyopathy is provided, establishing a mechanistic link between SMYD1 dysfunction and infantile cardiomyopathy and highlighting the importance of integrating genomic and functional...
Marta W. Szulik, Clint Gwynn, Magnus Creed et al.· bioRxiv· 0 citations
Patient mutations within Drp1, the master regulator of mitochondrial fission, lead to severe neurological defects and poor patient outcomes. Many of these mutations have been characterized as causing functional or assembly defects in Drp1, but our study highlights three mutations (G362S, E379K, E410K) that do not have...
Yuli Buckley, Anelise N. Hutson, Brianna L. Bauer et al.· Molecular Biology of the Cel...· 0 citations
These findings support the value of preclinical models for translational studies, and autophagy enhancement as a potential therapeutic strategy for HSPB8-related myopathy, and evaluated trehalose, a natural disaccharide that induces HSPB8 and enhances autophagy.
Alyaa Shmara, Lan Weiss, A. Gromova et al.· bioRxiv· 0 citations
Evidence is provided that biallelic CTNNA3 splice‐disrupting variants can cause human cardiomyopathy driven by ICD dysfunction, and the dissociation between ventricular recovery and persistent arrhythmia highlights the complex phenotypic spectrum of CTNNA3‐related disease.
Stefania Martino, Mara Doimo, M. Iacoviello et al.· Human Mutation· 0 citations
Preliminary variant-specific functional evidence is provided but do not establish the pathogenicity of the variant or the causal relationships among the observed cellular abnormalities, and further validation in endogenous and physiologically relevant cardac models is required.
Zi-Kang Han, Yong-Hao Sheng, Hanice Sun et al.· Hereditas· 0 citations
These findings establish a mechanistic link between mutation-induced structural dynamics and impaired PINK1–ubiquitin recognition at Ser65, providing a mutation-specific framework for understanding early mitophagy impairment in ARPD and supporting future molecular assessment and targeted therapeutic development.
Deborah Vincent, C. Sudandiradoss· Frontiers in Molecular Neuro...· 1 citation
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