Glutamine repeats and neurodegeneration
A growing number of neurodegenerative diseases have been found to result from the
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
Molecular mechanisms and potential therapeutical targets in Huntington's disease
C Zuccato, M Valenza, E Cattaneo - Physiological reviews, 2010 - journals.physiology.org
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
L Mangiarini, K Sathasivam, M Seller, B Cozens… - Cell, 1996 - cell.com
Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders
caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are …
caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are …
[HTML][HTML] Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
SW Davies, M Turmaine, BA Cozens, M DiFiglia… - Cell, 1997 - cell.com
Huntington's disease (HD) is one of an increasing number of human neurodegenerative
disorders caused by a CAG/polyglutamine-repeat expansion. The mutation occurs in a gene …
disorders caused by a CAG/polyglutamine-repeat expansion. The mutation occurs in a gene …
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
F Saudou, S Finkbeiner, D Devys, ME Greenberg - Cell, 1998 - cell.com
The mechanisms by which mutant huntingtin induces neurodegeneration were investigated
using a cellular model that recapitulates features of neurodegeneration seen in Huntington's …
using a cellular model that recapitulates features of neurodegeneration seen in Huntington's …
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease
C Zuccato, A Ciammola, D Rigamonti, BR Leavitt… - Science, 2001 - science.org
Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's
disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a …
disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a …
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
E Scherzinger, R Lurz, M Turmaine, L Mangiarini… - Cell, 1997 - cell.com
The mechanism by which an elongated polyglutamine sequence causes neurodegeneration
in Huntington's disease (HD) is unknown. In this study, we show that the proteolytic cleavage …
in Huntington's disease (HD) is unknown. In this study, we show that the proteolytic cleavage …
Non-ATG–initiated translation directed by microsatellite expansions
T Zu, B Gibbens, NS Doty… - Proceedings of the …, 2011 - National Acad Sciences
Trinucleotide expansions cause disease by both protein-and RNA-mediated mechanisms.
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …
Clinical and genetic abnormalities in patients with Friedreich's ataxia
A Dürr, M Cossee, Y Agid, V Campuzano… - … England Journal of …, 1996 - Mass Medical Soc
Background Friedreich's ataxia, the most common inherited ataxia, is associated with a
mutation that consists of an unstable expansion of GAA repeats in the first intron of the …
mutation that consists of an unstable expansion of GAA repeats in the first intron of the …
Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology
The data we report in this study concern the types, location, numbers, forms, and
composition of microscopic huntingtin aggregates in brain tissues from humans with different …
composition of microscopic huntingtin aggregates in brain tissues from humans with different …