Spectrin mutations in spinocerebellar ataxia (SCA)
Article Abstract:
BetaIII spectrins are recognized as ataxia disease genes and the latest members in the spinocerebellar ataxia (SCA) gene 'family' are constitutive neuronal genes that support alterations in cell signaling and in potassium channel function. The results have shown that the mechanical properties of neurons and their dynamics might be as important as altered [Ca.sup.2+] homeostasis, transcriptional dysregulation and impaired protein degradation in neurodegeneration conditions.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2006
User Contributions:
Comment about this article or add new information about this topic:
How do synonymous mutations affect fitness?
Article Abstract:
The effect of synonymous mutations on fitness of humans was examined. Recent studies suggest that such mutations can disrupt splicing and interfere with miRNA binding and also suggest additional mechanisms like modification of protein abundance and modification of protein structure and activity, which may affect fitness.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2007
User Contributions:
Comment about this article or add new information about this topic:
Dynamics mutations as digital genetic modulators of brain development, function and dysfunction
Article Abstract:
The involvement of dynamic mutations in brain disorders was analyzed with a focus on the large group caused by CAG/glutamine repeat expansions. Also the role of tandem repeats polymorphisms (TRPs) with unique digital genetic distributions, in modulating brain development and normal function was described.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2007
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Antigenic variation in Lyme disease Borreliae by promiscuous recombination of vmp-like sequence cassettes. TROSPA, an Ixodes scapularis receptor for Borrelia burgdorferi
- Abstracts: Molecular interactions between bacterial symbionts and their hosts. Twenty years of the Alzheimer's disease amyloid hypothesis: A genetic perspective
- Abstracts: The relationship between synapsis and recombination: two different views. Merging protein, gene and genomic data: The evolution of the MDR-ADH family
- Abstracts: A second common mutation in the methylenetetrahydrofolate reducase gene: an additional risk factor for neural-tube defects?
- Abstracts: Accommodating chromosome inversions in linkage analysis. Bayesian linkage analysis, or: how I learned to stop worrying and love the posterior probability of linkage