TY - JOUR
T1 - Expansion explosion
T2 - New clues to the pathogenesis of repeat expansion neurodegenerative diseases
AU - Margolis, Russell L.
AU - Ross, Christopher A.
PY - 2001
Y1 - 2001
N2 - The expansion in the identification of repeat expansion neurodegenerative diseases is leading to an increase in our understanding of their molecular mechanisms. Neuronal cell death is likely to be caused mainly by genetic gain-of-function mechanisms, with possible contribution from loss-of-function mechanisms as well. Postulated mechanisms involve abnormalities of protein folding, chaperone interactions, alterations in gene transcription, loss of neurotrophic support, and involvement of signal transduction pathways. Understanding the pathogenesis in these diseases is leading to the development of therapeutic strategies.
AB - The expansion in the identification of repeat expansion neurodegenerative diseases is leading to an increase in our understanding of their molecular mechanisms. Neuronal cell death is likely to be caused mainly by genetic gain-of-function mechanisms, with possible contribution from loss-of-function mechanisms as well. Postulated mechanisms involve abnormalities of protein folding, chaperone interactions, alterations in gene transcription, loss of neurotrophic support, and involvement of signal transduction pathways. Understanding the pathogenesis in these diseases is leading to the development of therapeutic strategies.
UR - http://www.scopus.com/inward/record.url?scp=0034762642&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034762642&partnerID=8YFLogxK
U2 - 10.1016/S1471-4914(01)02179-7
DO - 10.1016/S1471-4914(01)02179-7
M3 - Review article
C2 - 11689312
AN - SCOPUS:0034762642
SN - 1471-4914
VL - 7
SP - 479
EP - 482
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
IS - 11
ER -