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Trinucleotide expansions

Scheuermann, T., Schulz, B., Blume, A., Wahle, E., Rudolph, R., and Schwarz, E. (2003). Trinucleotide expansions leading to an extended poly-L-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation. Protein Sci. 12, 2685-2692. [Pg.213]

Keywords Cerebellar ataxias Dentatorubral pallidoluysian atrophy Fragile X syndrome Friedreich ataxia Huntington disease Myotonic dystrophy Spinobulbar muscular atrophy Trinucleotide expansion diseases... [Pg.320]

Disease Gene/Locus Trinucleotide Expansion Affected Protein... [Pg.323]

Diseases Due to a Coding Trinucleotide Expansion—Polyalanine (A )-Expansion Diseases... [Pg.344]

Among the trinucleotide-expansion diseases, it is still not yet clear what accounts for the sensitivity of nervous tissue to the altered genotype and what accounts for the selective vulnerability of different brain regions among the various diseases. However, some progress is being made. A feature of the Qn-expansion diseases and An-expansion diseases, is the presence of (or propensity to form) aberrant protein deposits in affected brain regions. In this respect, these diseases are similar to the... [Pg.348]

See other pages where Trinucleotide expansions is mentioned: [Pg.319]    [Pg.71]    [Pg.16]    [Pg.319]    [Pg.320]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.322]    [Pg.322]    [Pg.322]    [Pg.322]    [Pg.323]    [Pg.323]    [Pg.325]    [Pg.327]    [Pg.328]    [Pg.331]    [Pg.333]    [Pg.335]    [Pg.337]    [Pg.339]    [Pg.341]    [Pg.343]    [Pg.345]    [Pg.347]    [Pg.348]    [Pg.349]    [Pg.351]    [Pg.353]    [Pg.355]    [Pg.357]    [Pg.391]    [Pg.391]    [Pg.408]    [Pg.59]    [Pg.60]    [Pg.21]   
See also in sourсe #XX -- [ Pg.319 ]

See also in sourсe #XX -- [ Pg.21 ]



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Noncoding trinucleotide expansion diseases

Trinucleotide expansions disease

Trinucleotide repeat expansions

Trinucleotides

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