Cathleen M. Lutz

This paper develops an automated machine vision-based index for Rett Syndrome that improves preclinical phenotyping by detecting disease-relevant behaviors and reducing animal use.

The paper develops new mouse reporter models to detect genome editing events in vivo, including gene repair and CRISPR indels, and A-base editor activity.

The paper shows statins and mevalonate pathway inhibition increase STMN2 and ATF3, promoting neuronal regeneration in neurodegenerative disease.

OptiPrime predicts prime editing outcomes with high accuracy, enabling efficient therapeutic applications in human and mouse cells.

This paper maps the tissue tropism of ten AAV serotypes in mice after systemic delivery, identifying liver preference and unexpected transduction in adrenals, testes, and ovaries.

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

This study investigates the effects of two common Atp1a3 mutations in mice, revealing distinct neurological phenotypes and potential therapeutic avenues for alternating hemiplegia of childhood.

This study creates a novel SCA13 mouse model with a R424H mutation, showing motor deficits, Purkinje cell loss, cerebellar inflammation, and atrophy, linking neuroinflammation to neurodegeneration.

The paper characterizes the CAST/EiJ mouse strain as a model for severe COVID-19 by showing it develops high viral burdens, severe lung pathology, and cytokine dysregulation leading to mortality.

This study shows that SUMF1 gene therapy via hematopoietic stem cell transplant improves biochemical and functional outcomes in a mouse model of Multiple Sulfatase Deficiency.

This study demonstrates that in-utero restoration of KMT2A in a mouse model of WDSTS rescues neurological phenotypes, suggesting a therapeutic window during mid-gestation.

This paper develops a mouse model of ECHS1 deficiency and identifies valine metabolism and inflammation as drivers of epilepsy in the disease.

The paper introduces 11 wild-derived inbred mouse strains with expanded genomic and phenotypic diversity, enhancing the scope of biomedical research.

This study shows that ALS-linked PFN1 mutations impair vesicular degradation in iPSC-derived microglia by disrupting autophagy, which can be mitigated by Rapamycin.

This study shows that loss of TDP-43 in brain endothelial cells causes blood-brain barrier defects in mouse models of ALS and FTD.

This study develops non-viral nanocapsules for in vivo CRISPR-Cas9 delivery to edit neuronal DNA in mice, achieving efficient and safe genome editing in specific neuron types.

The paper introduces MiniMUGA, a genotyping array for mouse genetic QC, showing it effectively discriminates strains, detects genetic constructs, and identifies sex chromosome abnormalities.

The paper investigates how a gain-of-function K+ channel variant causes seizures by reducing inhibitory neuron excitability and increasing network hyperconnectivity.

This study models GRIN2A-related DEE in mice, identifies seizure and behavioral abnormalities, and evaluates treatment strategies.

BXD mouse family doubled to 150 inbred strains segregating over 6 million variants, with roughly 10,000 located recombinations and a public phenome exceeding 7000 traits.

This study identifies insertion sites in 40 transgenic mouse lines, revealing frequent disruptions of endogenous genes and structural variations.