[HTML][HTML] Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy
JL Walcott, DE Merry - Journal of Biological Chemistry, 2002 - ASBMB
Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is one of a group of
progressive neurodegenerative diseases resulting from a polyglutamine repeat expansion.
In SBMA the polymorphic trinucleotide CAG repeat in exon 1 of the androgen receptor (AR)
gene is increased, resulting in expansion of a polyglutamine tract. Patient autopsy material
reveals neuronal intranuclear inclusions (NII) in affected regions that contain only amino-
terminal epitopes of the AR. Cell models have previously been unable to produce …
progressive neurodegenerative diseases resulting from a polyglutamine repeat expansion.
In SBMA the polymorphic trinucleotide CAG repeat in exon 1 of the androgen receptor (AR)
gene is increased, resulting in expansion of a polyglutamine tract. Patient autopsy material
reveals neuronal intranuclear inclusions (NII) in affected regions that contain only amino-
terminal epitopes of the AR. Cell models have previously been unable to produce …