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 …

Huntington disease

JPG Vonsattel, M DiFiglia - Journal of neuropathology and …, 1998 - search.proquest.com
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder with midlife
onset characterized by psychiatric, cognitive, and motor symptoms. Death occurs between …

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 …

Expression of normal and mutant huntingtin in the developing brain

PG Bhide, M Day, E Sapp, C Schwarz… - Journal of …, 1996 - Soc Neuroscience
Huntington's disease (HD) is caused by a genetic mutation that results in a polyglutamine
expansion in huntingtin. The time course of neuronal loss in the HD striatum and other …

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 …

Loss of normal huntingtin function: new developments in Huntington's disease research

E Cattaneo, D Rigamonti, D Goffredo, C Zuccato… - Trends in …, 2001 - cell.com
Huntington's disease is characterized by a loss of brain striatal neurons that occurs as a
consequence of an expansion of a CAG repeat in the huntingtin protein. The resulting …

Replicating Huntington's disease phenotype in experimental animals

E Brouillet, F Conde, MF Beal, P Hantraye - Progress in neurobiology, 1999 - Elsevier
Huntington's disease (HD) is an inherited, autosomal dominant, neurodegenerative disorder
characterized by involuntary choreiform movements, cognitive decline and a progressive …

Huntingtin localization in brains of normal and Huntington's disease patients

E Sapp, C Schwarz, K Chase, PG Bhide… - Annals of Neurology …, 1997 - Wiley Online Library
The immunohistochemical localization of huntingtin was examined in the Huntington's
disease (HD) brain with an antibody that recognizes the wild‐type and mutant proteins …

Huntington disease: new insights on the role of huntingtin cleavage

CL Wellington, BR Leavitt, MR Hayden - Advances in Research on …, 2000 - Springer
Huntington Disease (HD) results from polyglutamine expansion within the N-terminus of
huntingtin. We have produced yeast artificial chromosome (YAC) transgenic mice …

Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin

G Schilling, MW Becher, AH Sharp… - Human molecular …, 1999 - academic.oup.com
Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the
expansion of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight …