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 …
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 …
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 …
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 …
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …
Drosophila as an In Vivo Model for Human Neurodegenerative Disease
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 …
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 …
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) …
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
Huntington's disease is caused by an abnormal polyglutamine expansion within the protein
huntingtin and is characterized by microscopic inclusion bodies of aggregated huntingtin …
huntingtin and is characterized by microscopic inclusion bodies of aggregated huntingtin …
Oligomeric and fibrillar species of amyloid-β peptides differentially affect neuronal viability
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 …
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 …
transgenic mice expressing wild-type human α-synuclein were generated. Neuronal …