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 …

Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

[HTML][HTML] Pathogenesis of SCA3 and implications for other polyglutamine diseases

HS McLoughlin, LR Moore, HL Paulson - Neurobiology of disease, 2020 - Elsevier
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …

Cyclic GMP-AMP synthase promotes the inflammatory and autophagy responses in Huntington disease

M Sharma, S Rajendrarao, N Shahani… - Proceedings of the …, 2020 - National Acad Sciences
Huntington disease (HD) is caused by an expansion mutation of the N-terminal
polyglutamine of huntingtin (mHTT). mHTT is ubiquitously present, but it induces noticeable …

Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA.
Along with single nucleotide polymorphisms and large structural variations, they are among …

DNA mismatch repair and its role in Huntington's disease

RR Iyer, A Pluciennik - Journal of Huntington's Disease, 2021 - content.iospress.com
DNA mismatch repair (MMR) is a highly conserved genome stabilizing pathway that corrects
DNA replication errors, limits chromosomal rearrangements, and mediates the cellular …

[HTML][HTML] DNA damage triggers a new phase in neurodegeneration

F Pessina, U Gioia, O Brandi, S Farina, M Ceccon… - Trends in Genetics, 2021 - cell.com
Subcellular compartmentalization contributes to the organization of a plethora of molecular
events occurring within cells. This can be achieved in membraneless organelles generated …

The complex mechanisms by which neurons die following DNA damage in neurodegenerative diseases

S Shadfar, M Brocardo, JD Atkin - International journal of molecular …, 2022 - mdpi.com
Human cells are exposed to numerous exogenous and endogenous insults every day.
Unlike other molecules, DNA cannot be replaced by resynthesis, hence damage to DNA can …

Chronic atrophic gastritis: a review

Y Li, R Xia, B Zhang, C Li - Journal of Environmental Pathology …, 2018 - dl.begellhouse.com
Chronic atrophic gastritis is a generally asymptomatic condition of great importance because
it develops into gastric cancer in a number of patients. It is described as an atrophy of the …