ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

[HTML][HTML] SOD1, more than just an antioxidant

ECA Eleutherio, RSS Magalhães… - Archives of Biochemistry …, 2021 - Elsevier
During cellular respiration, radicals, such as superoxide, are produced, and in a large
concentration, they may cause cell damage. To combat this threat, the cell employs the …

RNA in unexpected places: long non-coding RNA functions in diverse cellular contexts

S Geisler, J Coller - Nature reviews Molecular cell biology, 2013 - nature.com
The increased application of transcriptome-wide profiling approaches has led to an
explosion in the number of documented long non-coding RNAs (lncRNAs). While these new …

Cryo-EM structures of four polymorphic TDP-43 amyloid cores

Q Cao, DR Boyer, MR Sawaya, P Ge… - Nature structural & …, 2019 - nature.com
The DNA and RNA processing protein TDP-43 undergoes both functional and pathogenic
aggregation. Functional TDP-43 aggregates form reversible, transient species such as …

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …

Parkinson's disease and parkinsonism: neuropathology

DW Dickson - Cold Spring Harbor perspectives …, 2012 - perspectivesinmedicine.cshlp.org
Parkinsonism, the clinical term for a disorder with prominent bradykinesia and variable
associated extrapyramidal signs and symptoms, is accompanied by degeneration of the …

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

OD King, AD Gitler, J Shorter - Brain research, 2012 - Elsevier
Prions are self-templating protein conformers that are naturally transmitted between
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation

EL Guenther, Q Cao, H Trinh, J Lu… - Nature structural & …, 2018 - nature.com
The normally soluble TAR DNA-binding protein 43 (TDP-43) is found aggregated both in
reversible stress granules and in irreversible pathogenic amyloid. In TDP-43, the low …

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

PJ Lukavsky, D Daujotyte, JR Tollervey, J Ule… - Nature structural & …, 2013 - nature.com
TDP-43 encodes an alternative-splicing regulator with tandem RNA-recognition motifs
(RRMs). The protein regulates cystic fibrosis transmembrane regulator (CFTR) exon 9 …

Advances in understanding the molecular basis of frontotemporal dementia

R Rademakers, M Neumann… - Nature Reviews Neurology, 2012 - nature.com
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. Until recently, the underlying cause was known in only a minority of cases that were …