Our investigation into FAM161A gene replacement for RP28 emphasizes the importance of precise therapeutic gene regulation, appropriate vector dosing, and delivery of both isoforms. This precision is pivotal for secure gene therapy involving structural proteins like FAM161A....
7 Department of Genetics and Molecular Biology, Sankara Nethralaya, Chennai - 600 006, India 8 Unit of Gene Therapy and Stem Cell Biology, Jules-Gonin Eye Hospital, University of Lausanne, CH-1004 Lausanne, Switzerland Retinitis pigmentosa (RP) is a degenerative disease of the retina leading to...
Homozygous and compound heterozygous null mutations in the CRX-regulated FAM161A gene of unknown function were identified as a cause for autosomal recessive RP (RP28) in patients from India, Germany, Israel, the Palestinian territories, and the USA. The FAM161A protein has been found to be ...
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian populationJournal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human ...
Mutations in the FAM161A gene have been reported in association with autosomal recessive retinitis pigmentosa (arRP) in several ethnic populations. This study aimed to assess the prevalence of FAM161A-related retinopathy in a British cohort and to characterise the phenotype associated with mutations ...
Purpose : Gene replacement is the most intuitive approach to recessive diseases, and has spearheaded the development of gene therapy. Defects in the FAM161A gene encoding for two isoforms of a ciliary protein have been proven to cause autosomal recessive retinitis pigmentosa (RP28). FAM161A is ...
We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown function that contains a conserved region shared only with a distant paralog, FAM161B. In this study, we show that FAM161A localizes at the base of the ...
Therefore, the KI mouse model can serve as a suitable model to test this therapeutic modality in vivo as well as other modalities such as gene augmentation therapy and RNA editing.Prakadeeswari GopalakrishnanChen MatsevichEyal BaninDror Sharon...
The median age of disease onset for PRA in the six ESD cases is 4.99 years, which is comparable to Tibetan Terrier and Tibetan Spaniels affected by PRA3, breeds in which the causal PRA variant is also located in the FAM161A gene [3]. There was one outlier in the ESD-affected cohort...
The median age of disease onset for PRA in the six ESD cases is 4.99 years, which is comparable to Tibetan Terrier and Tibetan Spaniels affected by PRA3, breeds in which the causal PRA variant is also located in the FAM161A gene [3]. There was one outlier in the ESD-affected cohort...