Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis

A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …

Genetic mutations in RNA-binding proteins and their roles in ALS

K Kapeli, FJ Martinez, GW Yeo - Human genetics, 2017 - Springer
Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical
determinants of neurological diseases, especially motor neuron disorders such as …

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

T Altman, A Ionescu, A Ibraheem, D Priesmann… - Nature …, 2021 - nature.com
Mislocalization of the predominantly nuclear RNA/DNA binding protein, TDP-43, occurs in
motor neurons of~ 95% of amyotrophic lateral sclerosis (ALS) patients, but the contribution …

Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease

M Eshraghi, PP Karunadharma, J Blin… - Nature …, 2021 - nature.com
The polyglutamine expansion of huntingtin (mHTT) causes Huntington disease (HD) and
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …

[HTML][HTML] Identification of therapeutic targets for amyotrophic lateral sclerosis using PandaOmics–an AI-enabled biological target discovery platform

FW Pun, BHM Liu, X Long, HW Leung… - Frontiers in aging …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease with ill-defined
pathogenesis, calling for urgent developments of new therapeutic regimens. Herein, we …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …

The role of TDP-43 in neurodegenerative disease

YZ Liao, J Ma, JZ Dou - Molecular neurobiology, 2022 - Springer
In recent years, more and more neurodegenerative diseases, such as ALS, FTLD and AD,
have been found to share a common pathological feature, which is the depletion of TDP-43 …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

Cytoplasmic functions of TDP-43 and FUS and their role in ALS

N Birsa, MP Bentham, P Fratta - Seminars in cell & developmental biology, 2020 - Elsevier
TAR DNA-binding protein of 43 kDa (TDP-43) and fused in sarcoma (FUS) are RNA binding
proteins (RBPs) primarily located in the nucleus, and involved in numerous aspects of RNA …

RNA-binding proteins in neurological development and disease

S Prashad, PP Gopal - RNA biology, 2021 - Taylor & Francis
ABSTRACT RNA-binding proteins are a critical group of multifunctional proteins that
precisely regulate all aspects of gene expression, from alternative splicing to mRNA …