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 …
Mammalian telomeric RNA (TERRA) can be translated to produce valine–arginine and glycine–leucine dipeptide repeat proteins
TM Al-Turki, JD Griffith - Proceedings of the National …, 2023 - National Acad Sciences
Mammalian telomeres consist of (TTAGGG) n repeats. Transcription of the C-rich strand
generates a G-rich RNA, termed TERRA, containing G-quadruplex structures. Recent …
generates a G-rich RNA, termed TERRA, containing G-quadruplex structures. Recent …
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins
SE Wright, CM Rodriguez, J Monroe, J **ng… - Nucleic acids …, 2022 - academic.oup.com
CGG repeat expansions in the FMR1 5'UTR cause the neurodegenerative disease Fragile X-
associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary …
associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary …
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons
CJ Maltby, A Krans, SJ Grudzien, Y Palacios… - Science …, 2024 - science.org
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a
recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference …
recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference …
CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology
Amyotrophic lateral sclerosis and frontotemporal dementia patients with a hexanucleotide
repeat expansion in C9ORF72 (C9-HRE) accumulate poly-GR and poly-PR aggregates. The …
repeat expansion in C9ORF72 (C9-HRE) accumulate poly-GR and poly-PR aggregates. The …
Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS/FTD
B Khosravi, KD LaClair, H Riemenschneider… - The EMBO …, 2020 - embopress.org
The C9orf72 repeat expansion causes amyotrophic lateral sclerosis and frontotemporal
dementia, but the poor correlation between C9orf72‐specific pathology and TDP‐43 …
dementia, but the poor correlation between C9orf72‐specific pathology and TDP‐43 …
New pathologic mechanisms in nucleotide repeat expansion disorders
Tandem microsatellite repeats are common throughout the human genome and intrinsically
unstable, exhibiting expansions and contractions both somatically and across generations …
unstable, exhibiting expansions and contractions both somatically and across generations …
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
M Babić Leko, V Župunski, J Kirincich… - Behavioural …, 2019 - Wiley Online Library
Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum …
dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum …
Stress granule formation helps to mitigate neurodegeneration
Cellular stress pathways that inhibit translation initiation lead to transient formation of
cytoplasmic RNA/protein complexes known as stress granules. Many of the proteins found …
cytoplasmic RNA/protein complexes known as stress granules. Many of the proteins found …