Constance L. Cepko

The paper introduces SCRIBBLE, a lineage tracing tool that enables high-resolution, multigenerational lineage tracking in embryonic mouse retina.

In neonatal mice, AAV-driven GFP overexpression in RPE shows ER stress signatures and partly CHOP-dependent RPE damage, while IFNAR loss partly spares photoreceptors.

This paper develops a VSVdG-based strategy for one-step anterograde tracing in neural circuits by disrupting cytokine signaling pathways and using AAV trans-complementation.

This study shows that AAV-NRF2 protects retinal and choroidal vasculature in an oxidative damage model of AMD through GDF15, reducing inflammation and oxidative stress.

The paper identifies distinct neurogenic progenitor cell populations in the embryonic mouse retina that balance cell type production through Notch signaling and lateral inhibition.

This study shows neuronal overexpression of Nrf2 reduces dystrophic neurites in 5XFAD mice by lowering BACE1 and other proteins in these structures.

This paper develops humanized extracellular vesicles for efficient RNA delivery, achieving titers comparable to lentiviral vectors with reduced immunogenicity.

The paper introduces LS-MPRA and d-MPRA methods to map gene-specific regulatory regions at single nucleotide resolution, identifying known and novel CRMs in retinal and progenitor cells.

This study shows Tbx2, Tbx3, and Tbx5 regulate each other and early patterned genes in chick retinal development, affecting photoreceptor distribution and the rod-free zone.

This paper tests AAV8/Best1-Nrf2 gene therapy in rodent models of oxidative stress, showing protection of retinal cells and preservation of visual function.

The paper integrates in situ hybridization and scRNA-seq data to create 2D topographic maps of the developing retina across species, revealing conserved and divergent patterning programs.

The paper describes the development of a congenic C57BL/6 rd1 mouse model to improve retinal degeneration research by reducing genetic variability.

This paper introduces a method for high-plex fluorescent imaging using DNA strand displacement without fluidic exchange, achieving 25-plex RNA imaging in fixed cells.

This study shows that increasing MCT2 in RPE cells improves cone survival in RP models by enhancing lactate uptake and glucose transport.

The paper identifies a regulatory logic in progenitors that generates functionally related neuronal subtypes, showing its conservation across species.

This study identifies FAT3's role in bipolar cells for high-frequency light response in mouse retina, showing its necessity for synaptic localization of GRIK1.

This study investigates the effects of Txnip alleles and related proteins on cone survival in a retinitis pigmentosa mouse model, finding that specific Txnip variants and interactions with HSP90AB1 improve cone survival.

The paper identifies retinoic acid signaling in peripheral Muller glia as essential for cone photoreceptor survival in a mouse model of retinal degeneration.

The paper maps the spatiotemporal development of bipolar interneuron subtypes in the mammalian retina, revealing a hierarchical model of subtype genesis through ordered birthdates and oscillatory waves.

This study shows that enhancing CD47-SIRPα signaling protects cones in retinal degeneration models by promoting survival and preserving vision.

The paper identifies a new inhibitory retinal amacrine cell type, MAC, that forms direct electrical and chemical synapses with Müller glia, revealing neuron-glia coupling in the mammalian retina.

The paper identifies cis-regulatory modules regulated by Otx2 and Oc1 in cone photoreceptor development and shows Otx2 autoregulation.

The paper enhances Gibson Isothermal Assembly by adding a single-stranded DNA binding protein, improving accuracy and efficiency, especially with multiple fragments.

The paper identifies cis-regulatory elements (CREs) for photoreceptor cell types using Nrl-dependent ncRNA profiling and ATAC-seq in mouse retina.

Probe-Seq isolates and profiles specific cell types from heterogeneous tissues using RNA-based fluorescence sorting, applicable across multiple organisms.

The paper discusses strategies for targeted neuronal manipulation using adeno-associated virus (AAV) and other technologies, emphasizing best practices and future directions.

FIN-Seq enables transcriptional profiling of specific cell types in frozen human CNS tissues using immunolabeled nuclei sequencing.

SABER enables highly multiplexed and amplified detection of DNA and RNA in cells and tissues by using oligo-based probes with long DNA concatemers for sensitive fluorescent detection.

This study shows that transducing gluconeogenic enzymes into retinal cells delays cone photoreceptor loss and visual decline in retinitis pigmentosa models, regardless of the genetic cause.