Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

[HTML][HTML] 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 …

[HTML][HTML] Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis

VA Korobeynikov, AK Lyashchenko… - Nature medicine, 2022 - nature.com
Fused in sarcoma (FUS) is an RNA-binding protein that is genetically and pathologically
associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS) and …

[HTML][HTML] HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

W Guo, M Naujock, L Fumagalli, T Vandoorne… - Nature …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due
to selective loss of motor neurons (MNs). Mutations in the fused in sarcoma (FUS) gene can …

A single N‐terminal phosphomimic disrupts TDP‐43 polymerization, phase separation, and RNA splicing

A Wang, AE Conicella, HB Schmidt, EW Martin… - The EMBO …, 2018 - embopress.org
TDP‐43 is an RNA‐binding protein active in splicing that concentrates into membraneless
ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and …

Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins

A Ratti, E Buratti - Journal of neurochemistry, 2016 - Wiley Online Library
The multiple roles played by RNA binding proteins in neurodegeneration have become
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …

Sp1 and the 'hallmarks of cancer'

K Beishline, J Azizkhan‐Clifford - The FEBS journal, 2015 - Wiley Online Library
For many years, transcription factor Sp1 was viewed as a basal transcription factor and
relegated to a role in the regulation of so‐called housekeeping genes. Identification of Sp1's …

[HTML][HTML] Protein interaction networks in neurodegenerative diseases: From physiological function to aggregation

G Calabrese, C Molzahn, T Mayor - Journal of Biological Chemistry, 2022 - ASBMB
The accumulation of protein inclusions is linked to many neurodegenerative diseases that
typically develop in older individuals, due to a combination of genetic and environmental …

[HTML][HTML] 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 …

[HTML][HTML] Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

KJ De Vos, M Hafezparast - Neurobiology of disease, 2017 - Elsevier
Intracellular trafficking of cargoes is an essential process to maintain the structure and
function of all mammalian cell types, but especially of neurons because of their extreme …