Otoferlin is a protein that in humans is encoded by the OTOF gene. It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated...
11 KB (1,319 words) - 06:50, 9 May 2024
Nuclear receptor-binding protein 1 ODC1: Ornithine decarboxylase OTOF: otoferlin PAIP2B: Poly(a) binding protein interacting protein 2b PARK3 encoding...
40 KB (2,534 words) - 05:56, 28 July 2024
DB-OTO is an experimental gene therapy for otoferlin-related hearing loss developed by Regeneron Pharmaceuticals. It is delivered via adeno-associated...
2 KB (249 words) - 11:06, 9 May 2024
expression of otoferlin, a ribbon synapse associated protein, impairs exocytosis of ribbon-bound vesicles in auditory inner hair cells. Otoferlin displays...
29 KB (3,551 words) - 22:07, 2 January 2024
AAVAnc80-hOTOF is an experimental gene therapy for otoferlin gene-mediated hearing loss. Jiang, Luoying; Wang, Daqi; He, Yingzi; Shu, Yilai (April 2023)...
1 KB (105 words) - 03:58, 9 May 2024
retina Gene therapies are under development for: Usher syndrome deafness Otoferlin mutation deafness Kaji EH, Leiden JM (February 2001). "Gene and stem cell...
174 KB (17,957 words) - 10:42, 6 August 2024
each has a unique name and they correspond to dysferlin, myoferlin, and otoferlin accordingly. The first member of ferlin protein family, fer-1, was discovered...
26 KB (3,090 words) - 16:44, 3 December 2023
in this gene can lead to ciliary dyskinesia. OTOF encodes the protein otoferlin which has been suggested to be involved in vesicle membrane fusion. Mutations...
18 KB (1,605 words) - 22:35, 18 August 2024
proteins, such as beta-amyloid, protein elongation factor 1alpha, and otoferlin. Therefore, it may play an important role in cellular functions besides...
7 KB (888 words) - 12:17, 1 August 2023
"Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form". Hum Mol Genet...
3 KB (424 words) - 21:59, 18 August 2023