TY - JOUR
T1 - Therapy of Niemann - Pick disease, type C
AU - Patterson, Marc C.
AU - Platt, Frances
PY - 2004/10/11
Y1 - 2004/10/11
N2 - Niemann - Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.
AB - Niemann - Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.
KW - Gene
KW - Niemann - Pick disease
KW - Therapy
UR - http://www.scopus.com/inward/record.url?scp=4744339285&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=4744339285&partnerID=8YFLogxK
U2 - 10.1016/j.bbalip.2004.08.013
DO - 10.1016/j.bbalip.2004.08.013
M3 - Review article
C2 - 15465428
AN - SCOPUS:4744339285
SN - 1388-1981
VL - 1685
SP - 77
EP - 82
JO - Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
JF - Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
IS - 1-3
ER -