Article
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Human molecular genetics - 15 Jan 2010
Garcia-Arocena Dolores, Yang Jane E, Brouwer Judith R, Tassone Flora, Iwahashi Christine, Berry-Kravis Elizabeth M, Goetz Christopher G, Sumis Allison M, Zhou Lili, Nguyen Danh V, Campos Luis, Howell Erin, Ludwig Anna, Greco Claudia, Willemsen Rob, Hagerman Randi J, Hagerman Paul J
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as various forms of clinical involvement in carriers without FXTAS, are thought to arise through a direct toxic gain of function of high levels of FMR1 mRNA...
Topics
- Aged
- Aged, 80 and over
- Alleles
- Animals
- Cells, Cultured
- Fibroblasts
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Heterozygote
- Humans