Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

Globally reduced N6-methyladenosine (m6A) in C9ORF72-ALS/FTD dysregulates RNA metabolism and contributes to neurodegeneration

Y Li, X Dou, J Liu, Y Xiao, Z Zhang, L Hayes, R Wu… - Nature …, 2023 - nature.com
Repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Here we show that N 6 …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …

C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles

KH Lee, P Zhang, HJ Kim, DM Mitrea, M Sarkar… - Cell, 2016 - cell.com
Expansion of a hexanucleotide repeat GGGGCC (G 4 C 2) in C9ORF72 is the most common
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Transcripts …

A new phase of networking: the molecular composition and regulatory dynamics of mammalian stress granules

SR Millar, JQ Huang, KJ Schreiber, YC Tsai… - Chemical …, 2023 - ACS Publications
Stress granules (SGs) are cytosolic biomolecular condensates that form in response to
cellular stress. Weak, multivalent interactions between their protein and RNA constituents …

[HTML][HTML] In situ structure of neuronal C9orf72 poly-GA aggregates reveals proteasome recruitment

Q Guo, C Lehmer, A Martínez-Sánchez, T Rudack… - Cell, 2018 - cell.com
Protein aggregation and dysfunction of the ubiquitin-proteasome system are hallmarks of
many neurodegenerative diseases. Here, we address the elusive link between these …