Molecular mechanisms underlying nucleotide repeat expansion disorders
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 …
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 …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Decoding ALS: from genes to mechanism
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 …
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
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 …
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 …
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 …
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
INTRODUCTION Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)
are fatal neurodegenerative diseases that share clinical and neuropathological features …
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 …
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 …
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 …
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …