Publications by authors named "Carly S Golden"
Article Synopsis
- ATTR amyloidosis involves toxic aggregates of the transthyretin (TTR) protein deposited in tissues, and understanding the cellular damage caused by misfolded TTR proteins is still a challenge despite recent treatment advances.
- Researchers used neuronal and cardiac cells to analyze the effects of both wild-type and mutant TTR proteins through RNA and epigenetic profiling, revealing unique stress responses based on cell type and protein variant.
- The study found that mutant TTR caused chromatin changes in cardiac cells, which could be reversed by the stabilizing drug tafamidis, offering new insights into how destabilized proteins cause cellular damage and shedding light on cellular responses to various stressors.
Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.
Birth Defects Res
November 2023
Background: Kabuki syndrome type 1 (KS1), a rare multisystem congenital disorder, presents with characteristic facial features, intellectual disability, persistent fetal fingertip pads, skeletal abnormalities, and postnatal growth delays. KS1 results from pathogenic variants in the KMT2D gene, which encodes a histone methyltransferase protein involved in chromatin remodeling, promoter and enhancer regulation, and scaffold formation during early development. KMT2D also mediates cell signaling pathways, responding to external stimuli and organizing effector protein assembly.
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