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A Penetrable AAV2 Capsid Variant for Efficient Intravitreal Gene Delivery to the Retina.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: This study aimed to identify a novel recombinant adeno-associated virus (rAAV) capsid variant that can widely transfect the deep retina through intravitreal injection and to assess their effectiveness and safety in gene delivery.
Methods: By adopting the sequences of various cell-penetrating peptides and inserting them into the capsid modification region of AAV2, we generated several novel variants. The green fluorescent protein (GFP)-carrying variants were screened following intravitreal injection.
[Research progress in optogenetic therapy for retinitis pigmentosa].
Zhonghua Yan Ke Za Zhi
January 2025
Shenzhen Eye Hospital, Jinan University, Shenzhen Institute of Eye Disease Control, Shenzhen518040, China.
Retinitis pigmentosa (RP) is a group of inherited retinal diseases characterized by progressive loss of photoreceptor cells and retinal pigment epithelium function. Its treatment has long been a focus and challenge in ophthalmic research. Despite advances in therapies such as stem cell transplantation, gene therapy, and retinal prosthetic implants, many difficulties remain.
View Article and Find Full Text PDFAtypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Mol Genet Metab
December 2024
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States of America.
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFUnderstanding the genetics of sex determination in insects and its relevance to genetic pest management.
Insect Mol Biol
December 2024
Department of Zoology and Entomology, Forestry and Agricultural Biotechnology Institute (FABI), University of Pretoria, Pretoria, South Africa.
Sex determination pathways regulate male and female-specific development and differentiation and offer potential targets for genetic pest management methods. Insect sex determination pathways are comprised of primary signals, relay genes and terminal genes. Primary signals of coleopteran, dipteran, hymenopteran and lepidopteran species are highly diverse and regulate the sex-specific splicing of relay genes based on the primary signal dosage, amino acid composition or the interaction with paternally inherited genes.
View Article and Find Full Text PDFRole of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Variants Associated With Familial Mediterranean Fever.
Proteins
December 2024
Chemical and Biological Engineering, Koc University, Istanbul, Turkey.
This study presents a novel method to assess the pathogenicity of pyrin protein mutations by using mutual information (MI) as a measure to quantify the correlation between residue motions or fluctuations and associated changes affecting the phenotype. The concept of MI profile shift is presented to quantify changes in MI upon mutation, revealing insights into residue-residue interactions at critical positions. We apply this method to the pyrin protein variants, which are associated with an autosomal recessively inherited disease called familial Mediterranean fever (FMF) since the available tools do not help predict the pathogenicity of the most penetrant variants.
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