Glutamine repeats and inherited neurodegenerative diseases: molecular aspects

MF Perutz - Current opinion in structural biology, 1996 - Elsevier
Several dominantly inherited, late onset, neurodegenerative diseases are due to expansion
of CAG repeats, leading to expansion of glutamine repeats in the affected proteins. These …

Data mining for simple sequence repeats in expressed sequence tags from barley, maize, rice, sorghum and wheat

RV Kantety, M La Rota, DE Matthews… - Plant molecular biology, 2002 - Springer
Plant genomics projects involving model species and many agriculturally important crops
are resulting in a rapidly increasing database of genomic and expressed DNA sequences …

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

G Imbert, F Saudou, G Yvert, D Devys, Y Trottier… - Nature …, 1996 - nature.com
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

S Holbert, I Denghien, T Kiechle… - Proceedings of the …, 2001 - National Acad Sciences
Huntington's disease (HD) is a neurodegenerative disease caused by polyglutamine
expansion in the protein huntingtin (htt). Pathogenesis in HD appears to involve the …

Genetics and etiopathophysiology of schizophrenia

JL Sobell, MJ Mikesell, CT McMurray - Mayo Clinic Proceedings, 2002 - Elsevier
Schizophrenia is one of the most common, devastating, and least understood
neuropsychiatric illnesses present in the human population. Despite decades of research …

SCA6 is Caused by Moderate CAG Expansion in the α1A-Voltage-Dependent Calcium Channel Gene

O Riess, L Schöls, H Böttger, D Nolte… - Human molecular …, 1997 - academic.oup.com
Recently, moderate (CAG)> 20 repeat expansions in the α1A-voltage-dependent calcium
channel gene (CACNL1A4) have been identified in a previously unmapped type of SCA …

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21. 1

TS Breschel, MG McInnis, RL Margolis… - Human molecular …, 1997 - academic.oup.com
There are currently 13 diseases known to be caused by unstable triplet repeat mutations;
however, there are some instances (as with FRAXF and FRA16) when these mutations …

Genetic mapping to 10q23. 3-q24. 2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with …

M Seri, R Cusano, P Forabosco, R Cinti, F Caroli… - The American Journal of …, 1999 - cell.com
We have recently observed a large pedigree with a new rare autosomal dominant spastic
paraparesis. In three subsequent generations, 13 affected individuals presented with …

cDNAs with long CAG trinucleotide repeats from human brain

RL Margolis, MR Abraham, SB Gatchell, SH Li… - Human genetics, 1997 - Springer
Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat
expansion mutations. Expansion mutations may also cause a number of other disorders …

Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease

S Holbert, A Dedeoglu, S Humbert… - Proceedings of the …, 2003 - National Acad Sciences
Huntington's disease (HD) is a neurodegenerative disease caused by polyglutamine (polyQ)
expansion in the protein huntingtin (htt). Pathogenesis in HD seems to involve the formation …