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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
Recent studies have reported that alleles in the premutation range in the FMR1 gene in males result in increased FMR1 mRNA levels and at the same time mildly reduced FMR1 protein levels. Some elderlyExpand
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.
Lack of expression of the fragile X mental retardation protein (FMRP) results in mental retardation and macroorchidism, seen as the major pathological symptoms in fragile X patients. FMRP is aExpand
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.
Fragile X syndrome is caused by the absence of expression of the FMR1 gene. Both FXR1 and FXR2 are autosomal gene homologues of FMR1. The products of the three genes are belonging to a family ofExpand
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
THE fragile X syndrome is the most frequent form of inherited mental retardation after Down's syndrome, having an incidence of one in 1,250 males1,2. The fragile X syndrome results from amplificationExpand
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
FXR1 is one of the two known homologues of FMR1. FXR1 shares a high degree of sequence homology with FMR1 and also encodes two KH domains and an RGG domain, conferring RNA-binding capabilities. InExpand
Knockout mouse model for Fxr2: a model for mental retardation.
Fragile X syndrome is a common form of mental retardation caused by the absence of the FMR1 protein, FMRP. Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such asExpand
FMRP is associated to the ribosomes via RNA.
The FMR1 transcript is alternatively spliced and generates different splice variants coding for FMR1 proteins (FMRP) with a predicted molecular mass of 70-80 kDa. FMRP is widely expressed andExpand
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
In normal human fibroblasts, an enzymically active 85,000-dalton precursor form of beta-galactosidase is processed, via a number of intermediates, into a mature 64,000-dalton form. In addition thereExpand
Characterization of FMR1 proteins isolated from different tissues.
FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cells lines. TheExpand
Biochemical, immunological, and cell genetic studies in glycogenosis type II.
Fibroblasts from patients with the adult, juvenile, and infantile form of glycogenosis type II (Pompe disease) were cultured under standardized conditions, and the activity of acid alpha-glucosidaseExpand