Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
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 …
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …
De novo mutations in human genetic disease
JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …
the disease burden can only now be determined using family-based whole-genome or …
Disease-associated repeat instability and mismatch repair
MHM Schmidt, CE Pearson - DNA repair, 2016 - Elsevier
Expanded tandem repeat sequences in DNA are associated with at least 40 human genetic
neurological, neurodegenerative, and neuromuscular diseases. Repeat expansion can …
neurological, neurodegenerative, and neuromuscular diseases. Repeat expansion can …
Genomic imprinting and parent-of-origin effects on complex traits
Parent-of-origin effects occur when the phenotypic effect of an allele depends on whether it
is inherited from the mother or the father. Several phenomena can cause parent-of-origin …
is inherited from the mother or the father. Several phenomena can cause parent-of-origin …
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 …
DNA replication errors, limits chromosomal rearrangements, and mediates the cellular …
Selective vulnerability of layer 5a corticostriatal neurons in Huntington's disease
The properties of the cell types that are selectively vulnerable in Huntington's disease (HD)
cortex, the nature of somatic CAG expansions of mHTT in these cells, and their importance …
cortex, the nature of somatic CAG expansions of mHTT in these cells, and their importance …
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Recent genome-wide association studies of age-at-onset in Huntington's disease (HD) point
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice
Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to
ongoing disease progression through an affected individual's life with Huntington's disease …
ongoing disease progression through an affected individual's life with Huntington's disease …
Modifiers of CAG/CTG repeat instability: insights from mammalian models
VC Wheeler, V Dion - Journal of Huntington's disease, 2021 - content.iospress.com
At fifteen different genomic locations, the expansion of a CAG/CTG repeat causes a
neurodegenerative or neuromuscular disease, the most common being Huntington's …
neurodegenerative or neuromuscular disease, the most common being Huntington's …
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability
K Reddy, MHM Schmidt, JM Geist… - Nucleic acids …, 2014 - academic.oup.com
R-loops, transcriptionally-induced RNA: DNA hybrids, occurring at repeat tracts (CTG)
n,(CAG) n,(CGG) n,(CCG) n and (GAA) n, are associated with diseases including myotonic …
n,(CAG) n,(CGG) n,(CCG) n and (GAA) n, are associated with diseases including myotonic …