Kathryn J. Swoboda

Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasis

This study examines cardiac pathology in spinal muscular atrophy (SMA) and shows that SMN deficiency causes metabolic and PTEN signaling changes in cardiomyocytes.

Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular Atrophy

The paper measures circulating Tau and phosphorylated Tau profiles in SMA patients across different age groups and treatments, finding distinct alterations in adults and transient increases after gene therapy in infants.

Early Life Safety Profiling of Gene Therapy for Spinal Muscular Atrophy: A Case Series Analysis

This study evaluates the safety of onasemnogene abeparvovec gene therapy in SMA patients, showing transient liver enzyme elevations that normalized, with no impact from concurrent nusinersen treatment.

Base editing as a genetic treatment for spinal muscular atrophy

This paper describes the optimization of base editing to correct the SMN2 exon 7 mutation in SMA, achieving high editing efficiency and increased SMN protein levels in vitro and in vivo.

Neuronal Modeling of Alternating Hemiplegia of Childhood Reveals Transcriptional Compensation and Replicates a Trigger-Induced Phenotype

This study uses iPSC-derived neurons from AHC patients to show elevated ATP1A3 mRNA and a stress-induced hyperactivity phenotype, suggesting potential for therapeutic screening.

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

This study evaluates ELISA-based quantification of PrP in CSF as a biomarker for PrP-reducing therapeutics, showing its reliability and CNS origin.