Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation

KE De Rooij, JC Dorsman, MA Smoor… - Human molecular …, 1996 - academic.oup.com
Huntington's disease is a progressive neurodegenerative disorder, which is caused by
expansion of a polymorphic (CAG) n repeat in the coding region of the Huntington's disease …

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain

JD Wood, JC MacMillan, PS Harper… - Human molecular …, 1996 - academic.oup.com
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by the
expansion of a CAG repeat in a gene coding for a protein of unknown function. We have …

Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the …

JC Dorsman, MA Smoor… - … of the Royal …, 1999 - royalsocietypublishing.org
Huntington'sdisease (HD) is a neurodegenerative disorder with a midlife onset. The disease
is caused by expansion of a CAG (glutamine) repeat within the coding region of the HD …

Differential expression of normal and mutant Huntington's disease gene alleles

F Persichetti, L Carlee, PW Faber, SM McNeil… - Neurobiology of …, 1996 - Elsevier
Huntingtin expression was examined by Western blot and immunoprecipitation studies of
lymphoblastoid cell lines from Huntington's disease (HD) homozygotes, heterozygotes, and …

Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.

CA Gutekunst, AI Levey, CJ Heilman… - Proceedings of the …, 1995 - National Acad Sciences
The Huntington disease (HD) phenotype is associated with expansion of a trinucleotide
repeat in the IT15 gene, which is predicted to encode a 348-kDa protein named huntington …

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

A Novelletto, F Persichetti, G Sabbadini… - Human molecular …, 1994 - academic.oup.com
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 …

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Y Trottier, D Devys, G Imbert, F Saudou, I An, Y Lutz… - Nature …, 1995 - nature.com
Huntington's disease (HD) results from the expansion of a polyglutamine encoding CAG
repeat in a gene of unknown function. The wide expression of this transcript does not …

CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain

N Aronin, K Chase, C Young, E Sapp, C Schwarz… - Neuron, 1995 - Elsevier
A trinucleotide repeat (CAG) expansion in the huntingtin gene causes Huntington's disease
(HD). In brain tissue from HD heterozygotes with adult onset and more clinically severe …

Isolation of a 40-kDa Huntingtin-associated protein

MF Peters, CA Ross - Journal of Biological Chemistry, 2001 - ASBMB
Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a
polyglutamine stretch within the huntingtin protein. Currently, the function of normal …

Differential distribution of the normal and mutated forms of huntingtin in the human brain

I Gourfinkel‐An, G Cancel, Y Trottier… - Annals of …, 1997 - Wiley Online Library
Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide
repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein …