Combination of blockade of endothelin signalling and compensation of IGF1 expression protects the retina from degeneration
N Shigesada, N Shikada, M Shirai, M Toriyama… - Cellular and Molecular …, 2024 - Springer
Retinitis pigmentosa (RP) and macular dystrophy (MD) cause severe retinal dysfunction,
affecting 1 in 4000 people worldwide. This disease is currently assumed to be intractable …
affecting 1 in 4000 people worldwide. This disease is currently assumed to be intractable …
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina
Y Kobayashi, S Watanabe, ALC Ong… - Disease models & …, 2021 - journals.biologists.com
Retinitis pigmentosa (RP) and macular dystrophy (MD) are characterized by gradual
photoreceptor death in the retina and are often associated with genetic mutations, including …
photoreceptor death in the retina and are often associated with genetic mutations, including …
[HTML][HTML] Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice
Purpose.: Mutations in the Prominin-1 (Prom1) gene are known to cause retinitis pigmentosa
and Stargardt disease, both of which are associated with progressive photoreceptor cell …
and Stargardt disease, both of which are associated with progressive photoreceptor cell …
[HTML][HTML] Deletion of prominin-1 in mice results in disrupted photoreceptor outer segment protein homeostasis
YS Xiao, J Liang, M Gao, JR Sun, Y Liu… - International Journal …, 2021 - ncbi.nlm.nih.gov
AIM To illustrate the underlying mechanism how prominin-1 (also known as Prom1) mutation
contribute to progressive photoreceptor degeneration. METHODS A CRISPR-mediated …
contribute to progressive photoreceptor degeneration. METHODS A CRISPR-mediated …
Loss of Prom1 impairs autophagy and promotes epithelial‐mesenchymal transition in mouse retinal pigment epithelial cells
S Bhattacharya, J Yin, W Huo… - Journal of Cellular …, 2023 - Wiley Online Library
Abstract Mutations in the Prominin‐1 (Prom1) gene disrupt photoreceptor disk
morphogenesis, leading to macular dystrophies. We have shown that human retinal pigment …
morphogenesis, leading to macular dystrophies. We have shown that human retinal pigment …
Prominin–1 Deficiency Leads to Progressive Retinal Degeneration
H Oh, E Missol–Kolka, L Moons… - … & Visual Science, 2005 - iovs.arvojournals.org
Purpose: Prominin–1/CD133 (Prom–1) is a pentaspan membrane glycoprotein specifically
associated with plasma membrane protrusions. A frameshift mutation in the human PROM–1 …
associated with plasma membrane protrusions. A frameshift mutation in the human PROM–1 …
Prominin-1 is a novel regulator of autophagy in the human retinal pigment epithelium
S Bhattacharya, J Yin, CS Winborn… - … & visual science, 2017 - iovs.arvojournals.org
Purpose: Prominin-1 (Prom1) is a transmembrane glycoprotein, which is expressed in stem
cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the …
cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the …
Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice
H Xu, C Qu, L Gan, K Sun, J Tan, X Liu… - Human Molecular …, 2020 - academic.oup.com
Variants in interphotoreceptor matrix proteoglycans (IMPG2) have been reported in retinitis
pigmentosa (RP) and vitelliform macular dystrophy (VMD) patients. However, the underlying …
pigmentosa (RP) and vitelliform macular dystrophy (VMD) patients. However, the underlying …
Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration
Z Lu, X Hu, J Reilly, D Jia, F Liu, S Yu, X Liu… - Journal of Biological …, 2019 - ASBMB
Mutations in human prominin 1 (PROM1), encoding a transmembrane glycoprotein localized
mainly to plasma membrane protrusions, have been reported to cause retinitis pigmentosa …
mainly to plasma membrane protrusions, have been reported to cause retinitis pigmentosa …
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
FI Arrigoni, M Matarin, PJ Thompson… - European journal of …, 2011 - nature.com
Abstract Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa,
macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in …
macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in …