All Relations between Huntington Disease and huntingtin

Publication Sentence Publish Date Extraction Date Species
A Novelletto, F Persichetti, G Sabbadini, P Mandich, E Bellone, F Ajmar, F Squitieri, G Campanella, A Bozza, M E MacDonal. Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Human molecular genetics. vol 3. issue 7. 1995-01-05. PMID:7981682. two sources of variation in the huntingtin gene, the length of the ccg-rich segment downstream to the (cag)n stretch undergoing expansion in huntington disease (hd) and the deletion of 3 bp at codon positions 2642-2645 (delta 2642), were analysed on the normal and hd chromosomes of 80 italian families affected with hd. 1995-01-05 2023-08-12 human
A T Hoogeveen, R Willemsen, N Meyer, K E de Rooij, R A Roos, G J van Ommen, H Galjaar. Characterization and localization of the Huntington disease gene product. Human molecular genetics. vol 2. issue 12. 1994-03-31. PMID:8111375. immunobiochemcial studies with polyclonal antibodies directed against this synthetic peptide (position 3114-3141) on lymphoblastoid cells from normal individuals and patients with huntington disease, revealed the presence of a protein (huntingtin) with a molecular mass of approximately 330 kda. 1994-03-31 2023-08-12 Not clear
A Nørremølle, O Riess, J T Epplen, K Fenger, L Hasholt, S A Sørense. Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Human molecular genetics. vol 2. issue 9. 1993-12-30. PMID:8242074. trinucleotide repeat elongation in the huntingtin gene in huntington disease patients from 71 danish families. 1993-12-30 2023-08-12 Not clear