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@ARTICLE{Nitta:169351,
author = {Nitta, Yohei and Kawai, Hiroki and Maki, Ryuto and Osaka,
Jiro and Hakeda-Suzuki, Satoko and Nagai, Yoshitaka and
Doubková, Karolína and Uehara, Tomoko and Watanabe, Kenji
and Kosaki, Kenjiro and Suzuki, Takashi and Tavosanis, Gaia
and Sugie, Atsushi},
title = {{D}irect evaluation of neuroaxonal degeneration with the
causative genes of neurodegenerative diseases in drosophila
using the automated axon quantification system,
{M}e{DU}s{A}.},
journal = {Human molecular genetics},
volume = {32},
number = {9},
issn = {0964-6906},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DZNE-2023-00126},
pages = {1524-1538},
year = {2023},
abstract = {Drosophila is an excellent model organism for studying
human neurodegenerative diseases (NDs). However, there is
still almost no experimental system that could directly
observe the degeneration of neurons and automatically
quantify axonal degeneration. In this study, we created
MeDUsA (a 'method for the quantification of degeneration
using fly axons'), a standalone executable computer program
based on Python that combines a pre-trained deep-learning
masking tool with an axon terminal counting tool. This
software automatically quantifies the number of retinal R7
axons in Drosophila from a confocal z-stack image series.
Using this software, we were able to directly demonstrate
that axons were degenerated by the representative causative
genes of NDs for the first time in Drosophila. The fly
retinal axon is an excellent experimental system that is
capable of mimicking the pathology of axonal degeneration in
human NDs. MeDUsA rapidly and accurately quantifies axons in
Drosophila photoreceptor neurons. It enables large-scale
research into axonal degeneration, including screening to
identify genes or drugs that mediate axonal toxicity caused
by ND proteins and diagnose the pathological significance of
novel variants of human genes in axons.},
keywords = {Animals / Humans / Drosophila: genetics / Drosophila:
metabolism / Neurodegenerative Diseases: metabolism / Axons:
metabolism / Neurons: metabolism / Drosophila Proteins:
genetics / Drosophila Proteins: metabolism / Drosophila
Proteins (NLM Chemicals)},
cin = {AG Tavosanis},
ddc = {570},
cid = {I:(DE-2719)1013018},
pnm = {351 - Brain Function (POF4-351)},
pid = {G:(DE-HGF)POF4-351},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36611008},
doi = {10.1093/hmg/ddac307},
url = {https://pub.dzne.de/record/169351},
}