TY - JOUR
T1 - Disruption of ER-mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis
AU - Lau, Dawn H.W.
AU - Hartopp, Naomi
AU - Welsh, Natalie J.
AU - Mueller, Sarah
AU - Glennon, Elizabeth B.
AU - Mórotz, Gábor M.
AU - Annibali, Ambra
AU - Gomez-Suaga, Patricia
AU - Stoica, Radu
AU - Paillusson, Sebastien
AU - Miller, Christopher C.J.
PY - 2018/3/1
Y1 - 2018/3/1
N2 - Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two related and incurable neurodegenerative diseases. Features of these diseases include pathological protein inclusions in affected neurons with TAR DNA-binding protein 43 (TDP-43), dipeptide repeat proteins derived from the C9ORF72 gene, and fused in sarcoma (FUS) representing major constituent proteins in these inclusions. Mutations in C9ORF72 and the genes encoding TDP-43 and FUS cause familial forms of FTD/ALS which provides evidence to link the pathology and genetics of these diseases. A large number of seemingly disparate physiological functions are damaged in FTD/ALS. However, many of these damaged functions are regulated by signalling between the endoplasmic reticulum and mitochondria, and this has stimulated investigations into the role of endoplasmic reticulum-mitochondria signalling in FTD/ALS disease processes. Here, we review progress on this topic.
AB - Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two related and incurable neurodegenerative diseases. Features of these diseases include pathological protein inclusions in affected neurons with TAR DNA-binding protein 43 (TDP-43), dipeptide repeat proteins derived from the C9ORF72 gene, and fused in sarcoma (FUS) representing major constituent proteins in these inclusions. Mutations in C9ORF72 and the genes encoding TDP-43 and FUS cause familial forms of FTD/ALS which provides evidence to link the pathology and genetics of these diseases. A large number of seemingly disparate physiological functions are damaged in FTD/ALS. However, many of these damaged functions are regulated by signalling between the endoplasmic reticulum and mitochondria, and this has stimulated investigations into the role of endoplasmic reticulum-mitochondria signalling in FTD/ALS disease processes. Here, we review progress on this topic.
UR - http://www.scopus.com/inward/record.url?scp=85043278650&partnerID=8YFLogxK
U2 - 10.1038/s41419-017-0022-7
DO - 10.1038/s41419-017-0022-7
M3 - Review article
AN - SCOPUS:85043278650
SN - 2041-4889
VL - 9
JO - Cell Death and Disease
JF - Cell Death and Disease
IS - 3
M1 - 327
ER -