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 …

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 …

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 …

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 …

[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 …

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 …

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 …

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 …

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 …

Glutamine repeats and neurodegeneration

HY Zoghbi, HT Orr - Annual review of neuroscience, 2000 - annualreviews.org
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 …