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@ARTICLE{Pir:284047,
author = {Pir, Ghulam Jeelani and Buddenkotte, Joerg and Alam, Majid
Ali and Own, Ahmed and Eck, Randall J and Kraemer, Brian C
and Mandelkow, Eckhard and Steinhoff, Martin},
title = {{TDP}-43 proteinopathies and neurodegeneration: insights
from {C}aenorhabditis elegans models.},
journal = {The FEBS journal},
volume = {293},
number = {2},
issn = {0014-2956},
address = {Oxford [u.a.]},
publisher = {Wiley-Blackwell},
reportid = {DZNE-2026-00082},
pages = {348 - 384},
year = {2026},
abstract = {TDP-linked proteinopathies, including amyotrophic lateral
sclerosis (ALS), frontotemporal dementia (FTD) and
limbic-predominant age-related TDP-43 encephalopathy (LATE),
are characterised by pathogenic deposits containing
transactive response DNA-binding protein 43 (TDP-43) in the
brain and spinal cord of patients. These hallmark
pathological features are associated with widespread
neuronal dysfunction and progressive neurodegeneration.
TDP-43's role as an essential RNA/DNA-binding protein in RNA
metabolism and gene expression regulation is clear, but
deciphering the intricate pathophysiological mechanisms
underpinning TDP-43-mediated neurodegeneration is paramount
for developing effective therapies and novel diagnostic
tools for early detection before frank neuronal loss occurs.
The nematode Caenorhabditis elegans, with highly conserved
TDP-43 orthologue TDP-1, serves as a powerful genetic model
to investigate the molecular underpinnings of TDP-43
proteinopathies. Here, we provide a brief overview of the
structural and functional characteristics of TDP-43 and
TDP-1, highlighting their conserved roles in RNA metabolism,
stress responses, and neurodegeneration. We then delve into
the pathobiology of TDP-43, drawing insights from C. elegans
models expressing either monogenic TDP-43 variants or
bigenic combinations with ALS-associated risk genes, and
discuss how these models have advanced our understanding of
the pathomechanisms of TDP-43 proteinopathies. By employing
its simplicity and genetic manipulability, we discuss how
these models have helped identify chemical and genetic
suppressors of TDP-43-induced phenotypes, including small
molecules like Pimozide and the probiotic Lacticaseibacillus
rhamnosus HA-114, now in clinical trials. This review
underscores the translational value of C. elegans in
unraveling the biochemical pathways and interactions in
TDP-43 proteinopathies that perturb cellular physiology,
potentially facilitating mechanism-based therapy
development.},
subtyp = {Review Article},
keywords = {Animals / Caenorhabditis elegans: genetics / Caenorhabditis
elegans: metabolism / TDP-43 Proteinopathies: genetics /
TDP-43 Proteinopathies: pathology / TDP-43 Proteinopathies:
metabolism / DNA-Binding Proteins: genetics / DNA-Binding
Proteins: metabolism / DNA-Binding Proteins: chemistry /
Disease Models, Animal / Humans / Caenorhabditis elegans
Proteins: genetics / Caenorhabditis elegans Proteins:
metabolism / Neurodegenerative Diseases: genetics /
Neurodegenerative Diseases: pathology / Neurodegenerative
Diseases: metabolism / Amyotrophic Lateral Sclerosis:
genetics / Amyotrophic Lateral Sclerosis: pathology /
Amyotrophic Lateral Sclerosis: metabolism / Frontotemporal
Dementia: genetics / Frontotemporal Dementia: pathology /
Frontotemporal Dementia: metabolism / Alzheimer's disease
(AD) (Other) / C. elegans (Other) / GABA (Other) /
G‐protein coupled receptors (Other) / Huntington's disease
(Other) / Parkinson's disease (PD) (Other) /
TDP‐43/TDP‐1 (Other) / acetylcholine (Other) /
amyotrophic lateral sclerosis (ALS) (Other) / extracellular
vesicles (EV) (Other) / frontotemporal dementia (FTD)
(Other) / ion channels (Other) / limbic‐predominant
age‐related TDP‐43 encephalopathy (LATE) (Other) /
proteinopathies (Other) / tau (Other) / DNA-Binding Proteins
(NLM Chemicals) / Caenorhabditis elegans Proteins (NLM
Chemicals) / TARDBP protein, human (NLM Chemicals)},
cin = {AG (Eckhard) Mandelkow},
ddc = {610},
cid = {I:(DE-2719)1013014},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40891506},
doi = {10.1111/febs.70239},
url = {https://pub.dzne.de/record/284047},
}