Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea (Articolo in rivista)

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  • Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Alternative label
  • Provenzano C.a1; Veneziano L.a1; Appleton R.b; Frontali M.a; Civitareale D.a (2008)
    Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
    in Journal of the neurological sciences
    (literal)
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  • Provenzano C.a1; Veneziano L.a1; Appleton R.b; Frontali M.a; Civitareale D.a (literal)
Pagina inizio
  • 56 (literal)
Pagina fine
  • 62 (literal)
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  • Impact factor = 2.412 - Epub 2007 Sep 4. (literal)
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  • 264 (literal)
Rivista
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  • Volume n.264 (1-2) (literal)
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  • 7 (literal)
Note
  • ubMe (literal)
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  • a) Institute of Neurobiology and Molecular Medicine, National Council Research, Via Fosso del Cavaliere 100, 00133 Rome, Italy; b) Royal Liverpool Children's Hospital Eaton Rd, Liverpool L12-2AP, United Kingdom 1 = These two authors have contributed equally to this work. (literal)
Titolo
  • Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea (literal)
Abstract
  • Benign hereditary chorea (BHC) is an autosomal dominant disorder of early onset characterised by non progressive choreic movements with normal cognitive function occasionally associated with hypothyroidism and respiratory problems. Numerous pieces of evidence link BHC with TITF-1/NKX2.1 gene mutations. We studied a patient with a familial benign hereditary chorea and normal thyroid and respiratory function. Sequence analysis of TITF-1 revealed the presence of a heterozygous C > T substitution at nucleotide 532, predicted to change an arginine (CGA) with a stop codon (TGA) at position 178 (R178X). A functional analysis shows that the mutated TTF-1 is not binding DNA, nor activating the canonical thyroid target gene promoter or interfering with the ability of wild type TTF-1 to activate transcription. In addition, the mutated protein is predominantly cytoplasmic, rather than nuclear as in the case of the wild type TTF-1. Thus, we have identified a new mutation in the TTF-1 coding gene in a patient with benign hereditary chorea. The results show that the mutation leads to a haploinsufficiency of TITF-1 and opens the question of genotype/phenotype correlation. (literal)
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