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 …
Sequencing and characterizing short tandem repeats in the human genome
HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
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 …
Antisense oligonucleotides: translation from mouse models to human neurodegenerative diseases
KM Schoch, TM Miller - Neuron, 2017 - cell.com
Multiple neurodegenerative diseases are characterized by single-protein dysfunction and
aggregation. Treatment strategies for these diseases have often targeted downstream …
aggregation. Treatment strategies for these diseases have often targeted downstream …
[HTML][HTML] Regulation of proteasome activity in health and disease
M Schmidt, D Finley - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2014 - Elsevier
The ubiquitin–proteasome system (UPS) is the primary selective degradation system in the
nuclei and cytoplasm of eukaryotic cells, required for the turnover of myriad soluble proteins …
nuclei and cytoplasm of eukaryotic cells, required for the turnover of myriad soluble proteins …
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 …
The roles of intracellular protein-degradation pathways in neurodegeneration
DC Rubinsztein - Nature, 2006 - nature.com
Many late-onset neurodegenerative diseases, including Parkinson's disease and
Huntington's disease, are associated with the formation of intracellular aggregates by toxic …
Huntington's disease, are associated with the formation of intracellular aggregates by toxic …
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans
JF Morley, HR Brignull, JJ Weyers… - Proceedings of the …, 2002 - National Acad Sciences
Studies of the mutant gene in Huntington's disease, and for eight related neurodegenerative
disorders, have identified polyglutamine (polyQ) expansions as a basis for cellular toxicity …
disorders, have identified polyglutamine (polyQ) expansions as a basis for cellular toxicity …
Glutamine repeats and neurodegeneration
A growing number of neurodegenerative diseases have been found to result from the
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …