Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations
Article Abstract:
Identification of more than 80 genes associated with human photoreceptor degenerations is presented. The topics that offer insights into the one-hit or constant risk model of photoreceptor death, topological patterns of photoreceptor degeneration, mutations in ubiquitously expressed splicing factors genes associated only with photoreceptor degeneration are focused upon.
Publication Name: Annual Review of Neuroscience
Subject: Science and technology
ISSN: 0147-006X
Year: 2003
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RNA-mediated neuromuscular disorders
Article Abstract:
The RNA pathogenesis in myotonic dystrophy type 1 (DM1) and DM2 is discussed. Evidence is provided stating that similar mechanisms play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8, SCA10, SCA12 and Huntington's disease-like 2 (HDL2).
Publication Name: Annual Review of Neuroscience
Subject: Science and technology
ISSN: 0147-006X
Year: 2006
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