Importance: We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250. Observation...
Review article Nuclear proteins and cell death in inherited neuromuscular disease These are a subset of the triplet repeat diseases in which aCAG repeatis expressed as a polyGln sequence in the mutated protein. When repeats exceed about 40, pathogenesis is thought to involve a deleterious gain of...
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Article Open access 23 June 2021 Main HttQ111 knock-in mice models have proven to be excellent systems in which to study HTT CAG expansion. We previously identified key modifiers of this process through genetic crosses with mice harboring null mutations11,12,13,14,15, whose relevance has been...
The translesion DNA polymeraseθ (Polθ) carries a large insertion sequence in its catalytic domain, which has been shown to allow DNA loop-outs in the primer strand. As a result of high levels of oxidative DNA damage in neural cells and Polθ's subsequent involvement in base excision ...
ArticleCASGoogle Scholar Auffret van der Kemp. P., Thomas, D., Barbey, R., de Oliveira, R. & Boiteux, S. Cloning and expression inEscherichia coliof theOGG1gene ofSaccharomyces cerevisiae, which codes for a DNA glycosylase that excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy...
Objectives:To investigate the hypothesis that psychiatric disturbances in Huntington's disease are related to degree of cognitive or motor compromise and
We created homozygous cell lines in which AGO2 gene was knocked out (AGO2del) or a cleavage-deficient AGO2/ D597A protein was expressed (AGO2mut) (Fig. S8a, b). The D597A mutation in AGO2 is known to abolish RNA cleav- age without affecting efficiency of siRNA binding or trans- ...
Several children who participated were siblings and to avoid the confound of genetic relatedness, in the cases in which there were 1 or more siblings, the participants were randomly deleted and only 1 child from each family was included. The demographics of the group included 47 healthy children...
In this model, polyQ expansion proteins are toxic when expressed in a cell in which they both generate aggregates (first hit) and then coaggregate with endogenous aggregation-prone proteins, thus disrupting essential cellular functions (second hit) (Fig. 7A). Such a process may occur in S. ...