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Dynamic alternative DNA structures in biology and disease
G Wang, KM Vasquez - Nature Reviews Genetics, 2023 - nature.com
Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …
Repeat expansion diseases
H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …
expansions of simple sequence repeats dispersed throughout the human genome …
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
LJ Ozelius, JW Hewett, CE Page, SB Bressman… - Nature …, 1997 - nature.com
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle
contractures, that begins in childhood. Symptoms are believed to result from altered …
contractures, that begins in childhood. Symptoms are believed to result from altered …
Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation
RJ Carter, LA Lione, T Humby, L Mangiarini… - Journal of …, 1999 - Soc Neuroscience
Transgenic mice expressing exon 1 of the human Huntington's disease (HD) gene carrying
a 141–157 CAG repeat (line R6/2) develop a progressive neurological phenotype with …
a 141–157 CAG repeat (line R6/2) develop a progressive neurological phenotype with …
Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity
FC Nucifora Jr, M Sasaki, MF Peters, H Huang… - Science, 2001 - science.org
Expanded polyglutamine repeats have been proposed to cause neuronal degeneration in
Huntington's disease (HD) and related disorders, through abnormal interactions with other …
Huntington's disease (HD) and related disorders, through abnormal interactions with other …
Detection of Huntington's disease decades before diagnosis: the Predict-HD study
Objective: The objective of the Predict-HD study is to use genetic, neurobiological and
refined clinical markers to understand the early progression of Huntington's disease (HD) …
refined clinical markers to understand the early progression of Huntington's disease (HD) …
CAG repeat number governs the development rate of pathology in Huntington's disease
JB Penney Jr, JP Vonsattel… - Annals of Neurology …, 1997 - Wiley Online Library
We compared the number of CAG repeats, the age at death, and the severity of
neuropathology in 89 Huntington's disease brains. We found a linear correlation between …
neuropathology in 89 Huntington's disease brains. We found a linear correlation between …
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
HL Paulson, MK Perez, Y Trottier, JQ Trojanowski… - Neuron, 1997 - cell.com
The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is
unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar …
unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar …
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
G Schilling, MW Becher, AH Sharp… - Human molecular …, 1999 - academic.oup.com
Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the
expansion of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight …
expansion of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight …
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
G Imbert, F Saudou, G Yvert, D Devys, Y Trottier… - Nature …, 1996 - nature.com
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …