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| http://dx.doi.org/10.11604/pamj.2016.25.39.10172 | DOI Listing |
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Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Mol Ther
December 2024
Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, 34091 Montpellier, France; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, 34090 Montpellier, France. Electronic address:
Article Synopsis
- Inherited retinal diseases (IRDs) cause people to lose their vision slowly, and there are over 270 genes that can cause these problems.
- One specific gene, RLBP1, leads to different eye disorders depending on changes in that gene, affecting proteins important for seeing.
- Researchers created a method to treat these disorders using gene therapy, and they discovered a new form of the CRALBP protein that could help improve treatments in both humans and mice.
Biallelic Deletion of Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Mol Syndromol
October 2024
Department of Medical Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Article Synopsis
- Peroxisome biogenesis disorders (PBDs) include various diseases with diverse symptoms like developmental delays, hearing loss, and liver issues, linked to genetic mutations affecting peroxisome function.* -
- A patient was studied using whole-exome sequencing to identify genetic causes behind their clinical symptoms, which included developmental delays and organ enlargement, but no single-nucleotide mutations were found.* -
- However, a homozygous deletion in exon 4 of the gene was identified, affecting the protein's transmembrane domain, which is crucial for normal cellular processes and peroxisome function.*
A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease.
Cureus
February 2024
Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
This case report emphasizes the varied clinical features of Laurence-Moon-Bardet-Biedl syndrome (LMBBS) in a 10-year-old girl, presenting a rare combination of atypical retinitis punctata albescens, polydactyly, central obesity, and non-alcoholic fatty liver disease (NAFLD). Despite extensive management efforts, the patient's visual impairment remained unchanged, highlighting the challenging and progressive nature of LMBBS, particularly its ocular manifestations. Genetic counseling played a crucial role, stressing the significance of early genetic analysis in consanguineous marriages for anomaly detection and informed family planning.
View Article and Find Full Text PDFDifferential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies.
Invest Ophthalmol Vis Sci
May 2023
Department of Cell Biology and Anatomy, Hotchkiss Brain Institute, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Purpose: Plasmalogens (Plgs) are highly abundant lipids in the retina, and their deficiency leads to severe abnormalities during eye development. The first acylation step in the synthesis of Plgs is catalyzed by the enzyme glyceronephosphate O-acyltransferase (GNPAT), which is also known as dihydroxyacetone phosphate-acyltransferase (EC 2.3.
View Article and Find Full Text PDFThe downregulation of HSP90-controlled CRALBP expression is associated with age-related vision attenuation.
FASEB J
March 2023
The Division of Ophthalmology and Vision Science, Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.
The dysfunction of CRALBP, a key regulator of the visual cycle, is associated with retinitis punctata albescens characterized by night vision loss and retinal degeneration. In this paper, we find that the expression of CRALBP is regulated by heat shock protein 90 (HSP90). Inhibition of HSP90α or HSP90β expression by using the CRISPR-Cas9 technology downregulates CRALBP's mRNA and protein expression in ARPE-19 cells by triggering the degradation of transcription factor SP1 in the ubiquitin-proteasome pathway.
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