Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
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 …
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 …
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 …
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
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 …
ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and …
Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins
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 …
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 …
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 …
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 …
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 …
function of all mammalian cell types, but especially of neurons because of their extreme …