Results 41 to 50 of about 7,638 (169)
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
Advanced Science, EarlyView.By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen +11 more
wiley +1 more source
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.
, 2008 PURPOSE An increased mRNA expression of the genes coding for the extracellular matrix proteins neuroglycan C (NGC), interphotoreceptor matrix proteoglycan 2 (IMPG2), and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a ...
Oohira, Atsuhiko +4 more
core +3 more sources
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals. [PDF]
Invest Ophthalmol Vis SciRecessive RPE65-related retinopathy is an inherited retinal disease (IRD) that is a well-established target for gene therapy. Dominant RPE65-related retinopathy, however, due to Irish founder variant p.(D477G), is extremely rare.
Van Vooren E +37 more
europepmc +2 more sources
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Alignment of Human and Lamprey RPE65. CLUSTAL W (1.83) alignment of Human RPE65 and Lamprey RPE65.
, 2012 GenBank/EBI accession numbers are as follows: human RPE65, NP_000320, lamprey RPE65 JX115001. Red, conserved residues around catalytic cysteine.
Susan Gentleman (116510) +7 more
core +1 more source
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins [PDF]
, 2015 More than 100 different mutations in the RPE65 gene are associated with inherited retinal degeneration. Although some missense mutations have been shown to abolish isomerase activity of RPE65, the molecular bases leading to loss of function and retinal ...
Jane Hu +11 more
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background Transcription factors of the MIT/TFE family—mitfa, mitfb, and tfec—play essential roles in specifying pigment cells derived from neural crest cells in vertebrates. In teleosts, which possess multiple pigment cell types, these factors exhibit partially redundant but largely distinct functions across different pigment lineages.
James Lister +13 more
wiley +1 more source
The consequences of hypomorphic RPE65 for rod and cone photoreceptors
, 2015 RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene. Differential clinical manifestations suggested that some patients suffer from null mutations while
Barben, Maya +7 more
core +1 more source
Stem Cell Research, 2022 Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.
Irene Vázquez-Domínguez +9 more
doaj +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source