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@ARTICLE{Zhang:302880,
author = {L. Zhang and A. Pouya and J. Kopetzky and S. Bitar and C.
Wolf and F. D. Bello and D. Gómez-Zepeda$^*$ and S.
Tenzer$^*$ and A. Methner},
title = {{I}ncreased {BNIP}3-mediated mitophagy attenuates {GDAP}1
loss of function - implications for
{C}harcot-{M}arie-{T}ooth disease 4{A}.},
journal = {Neurobiology of disease},
volume = {213},
issn = {0969-9961},
address = {[Amsterdam]},
publisher = {Elsevier},
reportid = {DKFZ-2025-01420},
pages = {107019},
year = {2025},
abstract = {Charcot-Marie-Tooth disease type 4 A ((CMT4A), an autosomal
recessive neuropathy, is caused by mutations in
ganglioside-induced differentiation-associated protein 1
(GDAP1). GDAP1 resides in the outer mitochondrial membrane
facing the cytosol and is involved in mitochondrial dynamics
and function. Its perturbation affects mitochondrial shape,
contact sites, redox homeostasis and cellular metabolism. In
response to GDAP1 knockdown in a human neuronal cell line,
we found increased mitochondrial turnover, biogenesis and
mitophagy. This was associated with more lysosomal proteins
in mitochondrial fractions including BCL2/adenovirus E1B 19
kDa protein-interacting protein 3 (BNIP3) and its homolog
BNIP3-like (BNIP3L) - proteins involved in the recruitment
of autophagy machinery via direct interaction. Flies with
neural Gdap1 knockdown also exhibited upregulated levels of
the sole BNIP3 ortholog. Neural expression of human BNIP3
reduced the detrimental effects of Gdap1 knockdown on
eclosion and climbing ability in adult flies, while
simultaneous knockdown of both genes was detrimental. These
findings suggest that increased BNIP3-driven mitophagy may
act as a protective mechanism, partially counteracting the
cellular dysfunction caused by GDAP1 loss of function, and
highlight the potential of targeting mitophagy pathways as a
therapeutic strategy for CMT4A.},
keywords = {BNIP3 (Other) / Charcot-Marie-tooth (CMT) disease (Other) /
Drosophila (Other) / GDAP1 (Other) / Mitophagy (Other)},
cin = {D191 / D190},
ddc = {570},
cid = {I:(DE-He78)D191-20160331 / I:(DE-He78)D190-20160331},
pnm = {314 - Immunologie und Krebs (POF4-314)},
pid = {G:(DE-HGF)POF4-314},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40618856},
doi = {10.1016/j.nbd.2025.107019},
url = {https://inrepo02.dkfz.de/record/302880},
}