Sarah Franklin

Cardiomyocyte-specific loss of Smyd5 leads to a robust activation of inflammatory signaling and heart failure in mice.

This study shows that loss of Smyd5 in cardiomyocytes causes inflammation and heart failure in mice by reducing H4K20me3 and increasing Il-6 expression.

The SMYD1 p.Asn101Ser is a partial loss-of-function variant that impairs mitochondrial function and leads to early-onset cardiomyopathy.

This study functionally characterizes a SMYD1 variant linked to early-onset cardiomyopathy, showing it impairs mitochondrial function and leads to disease.

Perm1 Gene Therapy Mitigates PRDM16-Associated Cardiomyopathy

This study identifies PERM1 as a downstream target of PRDM16 and shows that Perm1 gene therapy improves cardiomyopathy in Prdm16 knockout mice through mitochondrial and sarcomere preservation.

Excessive Ca2+-dependent ER-mitochondrial contact stabilization by EFHD1 drives liver injury

This study identifies EFHD1 as a Ca2+-dependent stabilizer of ER-mitochondrial contacts that drives liver injury in MASH by promoting mitochondrial fragmentation and antiviral stress responses.

A repository of Ogden syndrome (NAA10) and NAA15 patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.

The paper describes the generation and characterization of patient-derived iPSC lines and isogenic pairs for Ogden syndrome, including CRISPR corrections and X-chromosome screening.