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 …

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 …

[HTML][HTML] 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 …

[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Q Zhu, J Jiang, TF Gendron, M McAlonis-Downes… - Nature …, 2020 - nature.com
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange
factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and …

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

YJ Zhang, L Guo, PK Gonzales, TF Gendron, Y Wu… - Science, 2019 - science.org
INTRODUCTION Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)
are fatal neurodegenerative diseases that share clinical and neuropathological features …

RNA toxicity in non‐coding repeat expansion disorders

B Swinnen, W Robberecht, L Van Den Bosch - The EMBO journal, 2020 - embopress.org
Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease

NB Nedelsky, JP Taylor - Nature Reviews Neurology, 2019 - nature.com
Biomolecular condensation arising through phase transitions has emerged as an essential
organizational strategy that governs many aspects of cell biology. In particular, the role of …

Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder

FB Gao, S Almeida, R Lopez‐Gonzalez - The EMBO journal, 2017 - embopress.org
Frontotemporal dementia (FTD), the second most common form of dementia in people under
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …