Anthony L. Cook
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View article: Generalizable features of pegRNA design for prime editing of inherited retinal diseases
Generalizable features of pegRNA design for prime editing of inherited retinal diseases Open
We establish a set of recommendations for the generalizable design of the non-engineered pegRNA 3' extension for the correction of several IRDs, enabling overall simplification of design parameters for PE2-based systems.
View article: A Timeline of Symptom Onset and Disease Progression in CLN3 Disease
A Timeline of Symptom Onset and Disease Progression in CLN3 Disease Open
Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in ea…
View article: A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.
A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder. Open
Acid ceramidase deficiency and consequently altered sphingolipid signaling promotes disease phenotype(s) in a lysosomal storage disorder, CLN3 disease.
View article: Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease
Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease Open
CLN3Δ7-8/Δ7-8 mutation (which affects ≤85% of patients) affects both RPE and POS and leads to photoreceptor cell loss in CLN3 disease. Furthermore, both primary RPE dysfunction and mutant POS independently contribute to impaired POS phagoc…
View article: Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease
Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease Open
Purpose CLN3 Batten disease (also known as Juvenile Neuronal Ceroid Lipofuscinosis; JNCL) is a lysosomal storage disorder that typically initiates with retinal degeneration but is followed by seizure onset, motor decline and premature deat…
View article: Experimental laboratory models as tools for understanding modifiable dementia risk
Experimental laboratory models as tools for understanding modifiable dementia risk Open
Experimental laboratory research has an important role to play in dementia prevention. Mechanisms underlying modifiable risk factors for dementia are promising targets for dementia prevention but are difficult to investigate in human popul…
View article: Retrieving UV–Vis spectral single-scattering albedo of absorbing aerosols above clouds from synergy of ORACLES airborne and A-train sensors
Retrieving UV–Vis spectral single-scattering albedo of absorbing aerosols above clouds from synergy of ORACLES airborne and A-train sensors Open
Inadequate knowledge about the complex microphysical and optical processes of the aerosol–cloud system severely restricts our ability to quantify the resultant impact on climate. Contrary to the negative radiative forcing (cooling) exerted…
View article: Induced pluripotent stem cell derived pericytes respond to mediators of proliferation and contractility
Induced pluripotent stem cell derived pericytes respond to mediators of proliferation and contractility Open
Background Pericytes are multifunctional contractile cells that reside on capillaries. Pericytes are critical regulators of cerebral blood flow and blood–brain barrier function, and pericyte dysfunction may contribute to the pathophysiolog…
View article: High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma Open
Introduction Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterized by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) hav…
View article: Induced pluripotent stem cell derived pericytes respond to endogenous mediators of proliferation and contractility
Induced pluripotent stem cell derived pericytes respond to endogenous mediators of proliferation and contractility Open
Background Pericytes are multifunctional contractile cells that reside on capillaries. Pericytes are critical regulators of cerebral blood flow and blood-brain barrier function, and pericyte dysfunction may contribute to the pathophysiolog…
View article: Comment on egusphere-2023-1717
Comment on egusphere-2023-1717 Open
Abstract. Inadequate knowledge about the complex microphysical and optical processes of the aerosol-cloud system severely restricts our ability to quantify the resultant impact on climate. Contrary to the negative radiative forcing (coolin…
View article: HDAC6 inhibition as a mechanism to prevent axon degeneration in the mSOD1<sup>G93A</sup>mouse model of ALS
HDAC6 inhibition as a mechanism to prevent axon degeneration in the mSOD1<sup>G93A</sup>mouse model of ALS Open
The loss of upper and lower motor neurons, and their axons is central to the loss of motor function and death in amyotrophic lateral sclerosis (ALS). Due to the diverse range of genetic and environmental factors that contribute to the path…
View article: Retrieving UV-VIS Spectral Single-scattering Albedo of Absorbing Aerosols above Clouds from Synergy of ORACLES Airborne and A-train Sensors
Retrieving UV-VIS Spectral Single-scattering Albedo of Absorbing Aerosols above Clouds from Synergy of ORACLES Airborne and A-train Sensors Open
Inadequate knowledge about the complex microphysical and optical processes of the aerosol-cloud system severely restricts our ability to quantify the resultant impact on climate. Contrary to the negative radiative forcing (cooling) exerted…
View article: Spatially coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: the NASA ACTIVATE dataset
Spatially coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: the NASA ACTIVATE dataset Open
The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) produced a unique dataset for research into aerosol–cloud–meteorology interactions, with applications extending from process-based studies to m…
View article: High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma Open
INTRODUCTION Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterised by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) hav…
View article: Comment on essd-2023-109
Comment on essd-2023-109 Open
Abstract. The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) produced a unique dataset for research into aerosol-cloud-meteorology interactions with applications extending from process-based stu…
View article: Airborne HSRL-2 measurements of elevated aerosol depolarization associated with non-spherical sea salt
Airborne HSRL-2 measurements of elevated aerosol depolarization associated with non-spherical sea salt Open
Airborne NASA Langley Research Center (LaRC) High Spectral Resolution Lidar-2 (HSRL-2) measurements acquired during the recent NASA Earth Venture Suborbital-3 (EVS-3) Aerosol Cloud Meteorology Interactions over the Western Atlantic Experim…
View article: Supplementary material to "Spatially-coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: The NASA ACTIVATE dataset"
Supplementary material to "Spatially-coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: The NASA ACTIVATE dataset" Open
RF22), Deployment 2 (RF23-RF40), Deployment 3 (RF41-RF61), Deployment 4 (RF62-RF93), Deployment 5 (RF94-RF148), Deployment 6 (RF149-RF179).
View article: Spatially-coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: The NASA ACTIVATE dataset
Spatially-coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: The NASA ACTIVATE dataset Open
The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) produced a unique dataset for research into aerosol-cloud-meteorology interactions with applications extending from process-based studies to mu…
View article: Deep Learning-based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell and Organelle Morphology
Deep Learning-based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell and Organelle Morphology Open
PURPOSE The exact pathogenesis of primary open-angle glaucoma (POAG) is poorly understood. Genome-wide association studies (GWAS) have recently uncovered many loci associated with variation in intraocular pressure (IOP); a crucial risk fac…
View article: Seeing Neurodegeneration in a New Light Using Genetically Encoded Fluorescent Biosensors and iPSCs
Seeing Neurodegeneration in a New Light Using Genetically Encoded Fluorescent Biosensors and iPSCs Open
Neurodegenerative diseases present a progressive loss of neuronal structure and function, leading to cell death and irrecoverable brain atrophy. Most have disease-modifying therapies, in part because the mechanisms of neurodegeneration are…
View article: The role of altered protein acetylation in neurodegenerative disease
The role of altered protein acetylation in neurodegenerative disease Open
Acetylation is a key post-translational modification (PTM) involved in the regulation of both histone and non-histone proteins. It controls cellular processes such as DNA transcription, RNA modifications, proteostasis, aging, autophagy, re…
View article: Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons Open
CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3, with most affected individuals carrying at least one allele with a 966 bp deletion. Using CRISPR/Cas9, we corrected t…
View article: Assessment of NAAPS-RA performance in Maritime Southeast Asia during CAMP <sup>2</sup> Ex
Assessment of NAAPS-RA performance in Maritime Southeast Asia during CAMP <sup>2</sup> Ex Open
Monitoring and modeling aerosol particle life cycle in Southeast Asia (SEA) is challenged by high cloud cover, complex meteorology, and the wide range of aerosol species, sources, and transformations found throughout the region. Satellite …
View article: J-Band Measurements for All-Hours Lunar Impact Flash Observations
J-Band Measurements for All-Hours Lunar Impact Flash Observations Open
<p><strong>Introduction</strong></p><p>A lunar impact flash (LIF) is a rapid burst of light caused by a hypervelocity impactor hitting the moon, releasing a fraction of its energy as light. They are observable…
View article: Vertical structure of biomass burning aerosol transported over the southeast Atlantic Ocean
Vertical structure of biomass burning aerosol transported over the southeast Atlantic Ocean Open
Biomass burning in southwestern Africa produces smoke plumes that are transported over the Atlantic Ocean and overlie vast regions of stratocumulus clouds. This aerosol layer contributes to direct and indirect radiative forcing of the atmo…