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 …

Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

Huntington's disease: mechanisms of pathogenesis and therapeutic strategies

M Jimenez-Sanchez, F Licitra… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG
trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined …

Polyglutamine repeats in neurodegenerative diseases

AP Lieberman, VG Shakkottai… - Annual Review of …, 2019 - annualreviews.org
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …

Drosophila as an In Vivo Model for Human Neurodegenerative Disease

L McGurk, A Berson, NM Bonini - Genetics, 2015 - academic.oup.com
With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

Unfolding the role of protein misfolding in neurodegenerative diseases

C Soto - Nature Reviews Neuroscience, 2003 - nature.com
Recent evidence indicates that diverse neurodegenerative diseases might have a common
cause and pathological mechanism—the misfolding, aggregation and accumulation of …

[HTML][HTML] RNA and disease

TA Cooper, L Wan, G Dreyfuss - Cell, 2009 - cell.com
Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …

Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

M Arrasate, S Mitra, ES Schweitzer, MR Segal… - nature, 2004 - nature.com
Huntington's disease is caused by an abnormal polyglutamine expansion within the protein
huntingtin and is characterized by microscopic inclusion bodies of aggregated huntingtin …

Oligomeric and fibrillar species of amyloid-β peptides differentially affect neuronal viability

KN Dahlgren, AM Manelli, WB Stine, LK Baker… - Journal of Biological …, 2002 - ASBMB
Genetic evidence predicts a causative role for amyloid-β (Aβ) in Alzheimer's disease. Recent
debate has focused on whether fibrils (amyloid) or soluble oligomers of Aβ are the active …

Dopaminergic loss and inclusion body formation in α-synuclein mice: implications for neurodegenerative disorders

E Masliah, E Rockenstein, I Veinbergs, M Mallory… - Science, 2000 - science.org
To elucidate the role of the synaptic protein α-synuclein in neurodegenerative disorders,
transgenic mice expressing wild-type human α-synuclein were generated. Neuronal …