[PDF][PDF] Restoration of visual function in advanced disease after transplantation of purified human pluripotent stem cell-derived cone photoreceptors

…, MF Martins, MM Khorasani, A Hare, M Basche… - Cell reports, 2021 - cell.com
Age-related macular degeneration and other macular diseases result in the loss of light-sensing
cone photoreceptors, causing irreversible sight impairment. Photoreceptor replacement …

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 …

…, X Xu, X Liu, JB Bainbridge, M Basche… - Human molecular …, 2009 - academic.oup.com
Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting
protein-like 1 (AIPL1) are clinically heterogeneous and present as Leber Congenital …

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

…, ASLM Antunes, N Palomar, P Aldrin-Kirk, M Basche… - Brain, 2018 - academic.oup.com
Recombinant adeno-associated viruses (AAVs) are popular in vivo gene transfer vehicles.
However, vector doses needed to achieve therapeutic effect are high and some target tissues …

Nanotube‐like processes facilitate material transfer between photoreceptors

AA Kalargyrou, M Basche, A Hare, EL West… - EMBO …, 2021 - embopress.org
Neuronal communication is typically mediated via synapses and gap junctions. New forms
of intercellular communication, including nanotubes (NTs) and extracellular vesicles (EVs), …

RNAi‐mediated suppression of vimentin or glial fibrillary acidic protein prevents the establishment of Müller glial cell hypertrophy in progressive retinal degeneration

C Hippert, AB Graca, M Basche, AA Kalargyrou… - Glia, 2021 - Wiley Online Library
Gliosis is a complex process comprising upregulation of intermediate filament (IF) proteins,
particularly glial fibrillary acidic protein (GFAP) and vimentin, changes in glial cell …

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

…, R Maswood, O Semenyuk, M Basche… - Human molecular …, 2019 - academic.oup.com
The neuronal ceroid lipofuscinoses (NCLs), more commonly referred to as Batten disease,
are a group of inherited lysosomal storage disorders that present with neurodegeneration, …

Successful Gene Therapy in Older Rpe65-Deficient Dogs Following Subretinal Injection of an Adeno-Associated Vector Expressing RPE65

…, JT Bartoe, J Querubin, SA Azam, M Basche… - Human gene …, 2013 - liebertpub.com
Young Rpe65-deficient dogs have been used as a model for human RPE65 Leber congenital
amaurosis (RPE65-LCA) in proof-of-concept trials of recombinant adeno-associated virus (…

Sustained and Widespread Gene Delivery to the Corneal Epithelium via In Situ Transduction of Limbal Epithelial Stem Cells, Using Lentiviral and Adeno-Associated …

M Basche, D Kampik, S Kawasaki, MJ Branch… - Human gene …, 2018 - liebertpub.com
Corneal epithelial dystrophies are typically characterized by symptoms such as pain, light
sensitivity, and corneal opacification leading to impaired vision. The development of gene …

In situ regeneration of retinal pigment epithelium by gene transfer of E2F2: a potential strategy for treatment of macular degenerations

D Kampik, M Basche, UFO Luhmann, KM Nishiguchi… - Gene therapy, 2017 - nature.com
The retinal pigment epithelium (RPE) interacts closely with photoreceptors to maintain visual
function. In degenerative diseases such as Stargardt disease and age-related macular …

[HTML][HTML] Modulation of contact inhibition by ZO-1/ZONAB gene transfer—a new strategy to increase the endothelial cell density of corneal grafts

D Kampik, M Basche, A Georgiadis… - … & Visual Science, 2019 - iovs.arvojournals.org
Purpose: Endothelial cell density (ECD) is the principal factor determining the success of
corneal transplants. Here we explored a strategy to increase corneal ECD in human explants …