Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids
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Title
Gene correction of the
CLN3
c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids
Authors
Keywords
-
Journal
Molecular Genetics & Genomic Medicine
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2021-01-27
DOI
10.1002/mgg3.1601
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Note: Only part of the references are listed.- Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3 -associated retinal degeneration and a coisogenic control line
- (2018) Xiao Zhang et al. Stem Cell Research
- Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)
- (2018) Fred K. Chen et al. DOCUMENTA OPHTHALMOLOGICA
- Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
- (2017) Cristy A. Ku et al. JAMA Ophthalmology
- Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis
- (2016) Sandra Oetjen et al. JOURNAL OF NEUROCHEMISTRY
- RNAi-mediated knockdown of the CLN3 gene inhibits proliferation and promotes apoptosis in drug-resistant ovarian cancer cells
- (2015) DONGWEI MAO et al. Molecular Medicine Reports
- IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells
- (2015) Carla B. Mellough et al. STEM CELLS
- Evidence for Aberrant Astrocyte Hemichannel Activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)
- (2014) Maria Burkovetskaya et al. PLoS One
- FRET-Assisted Determination of CLN3 Membrane Topology
- (2014) Ewa Ratajczak et al. PLoS One
- Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
- (2013) Feng Wang et al. HUMAN GENETICS
- Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
- (2013) Xenia Lojewski et al. HUMAN MOLECULAR GENETICS
- Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype
- (2013) Juan Xiong et al. JOURNAL OF NEUROCHEMISTRY
- The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
- (2012) Susan L Cotman et al. Clinical Lipidology
- Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells
- (2011) Yi Cao et al. PLoS One
- Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function
- (2010) Amanda L. Getty et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data
- (2008) Timothy Nugent et al. FEBS LETTERS
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