-
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 ****ociated...
- DB-OTO is an
experimental gene
therapy for
otoferlin-related
hearing loss
developed by
Regeneron Pharmaceuticals. It is
delivered via adeno-****ociated...
-
Nuclear receptor-binding
protein 1 ODC1:
Ornithine decarboxylase OTOF:
otoferlin PAIP2B: Poly(a)
binding protein interacting protein 2b PARK3 encoding...
- AAVAnc80-hOTOF is an
experimental gene
therapy for
otoferlin gene-mediated
hearing loss. Jiang, Luoying; Wang, Daqi; He, Yingzi; Shu,
Yilai (April 2023)...
- 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...
-
expression of
otoferlin, a
ribbon synapse ****ociated protein,
impairs exocytosis of ribbon-bound
vesicles in
auditory inner hair cells.
Otoferlin displays...
- proteins, such as beta-amyloid,
protein elongation factor 1alpha, and
otoferlin. Therefore, it may play an
important role in
cellular functions besides...
- "Rab8b GTPase, a
protein transport regulator, is an
interacting partner of
otoferlin,
defective in a
human autosomal recessive deafness form". Hum Mol Genet...
-
Dozens of
additional genes for
nonsyndromic deafness have been identified.
Otoferlin gene
defects are the
cause of
around 1% to 3% of
cases of
inborn deafness...
- 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...