Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

2012 ◽  
Vol 44 (7) ◽  
pp. 797-802 ◽  
Author(s):  
Saskia B Wortmann ◽  
Frédéric M Vaz ◽  
Thatjana Gardeitchik ◽  
Lisenka E L M Vissers ◽  
G Herma Renkema ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Cholesterol Trafficking ◽  
Intracellular Cholesterol

Apolipoprotein A-I stimulates the transport of intracellular cholesterol to cell-surface cholesterol-rich domains (caveolae)

2001 ◽  
Vol 358 (1) ◽  
pp. 79-86 ◽  
Author(s):  
Dmitri SVIRIDOV ◽  
Noel FIDGE ◽  
Gabrielle BEAUMIER-GALLON ◽  
Christopher FIELDING
Keyword(s):  
Cell Surface ◽  
Cholesterol Efflux ◽  
Partial Purification ◽  
Cholesterol Transport ◽  
Dependent Manner ◽  
Cholesterol Trafficking ◽  
Apolipoprotein A ◽  
Intracellular Cholesterol ◽  
Plasma Apolipoprotein ◽  
Stimulation Of

We have studied the effect of lipid-free human plasma apolipoprotein A-I (apoA-I) on the transport of newly synthesized cholesterol to cell-surface cholesterol-rich domains, which in human skin fibroblasts are mainly represented by caveolae. Changes in transport of newly synthesized cholesterol were assessed after labelling cells with [14C]acetate at 15°C and warming cells to permit the transfer of cholesterol, followed by the selective oxidation of cholesterol in cholesterol-rich domains (caveolae) in the plasma membrane before their partial purification. ApoA-I, but not BSA added in an equimolar concentration, enhanced the transport of cholesterol to the caveolae up to 5-fold in a dose- and time-dependent manner. The effect of apoA-I on cholesterol transport exceeded its effect on cholesterol efflux, resulting in an accumulation of intracellular cholesterol in caveolae. Methyl-β-cyclodextrin, added at a concentration promoting cholesterol efflux to the same extent as apoA-I, also stimulated cholesterol trafficking, but was 3-fold less effective than apoA-I. Progesterone inhibited the transport of newly synthesized cholesterol to the caveolae. Treatment of cells with apoA-I stimulated the expression of caveolin, increasing the amount of caveolin protein and mRNA by approx. 2-fold. We conclude that apoA-I induces the transport of intracellular cholesterol to cell-surface caveolae, possibly in part through the stimulation of caveolin expression.

scholarly journals Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking

2009 ◽  
Vol 10 (3) ◽  
pp. 208-218 ◽  
Author(s):  
Kenneth D. Harrison ◽  
Robert Qing Miao ◽  
Carlos Fernandez-Hernándo ◽  
Yajaira Suárez ◽  
Alberto Dávalos ◽  
...  
Keyword(s):  
Cholesterol Trafficking ◽  
Intracellular Cholesterol ◽  
Niemann Pick

[P3-416]: PROFILE OF INTRACELLULAR CHOLESTEROL TRAFFICKING IN POSTMORTEM BRAINS OF DOWN SYNDROME AND ALZHEIMER DISEASE

2017 ◽  
Vol 13 (7S_Part_23) ◽  
pp. P1125-P1125
Author(s):  
Fabian O. Arenas Rios ◽  
Laura Diaz-Marugan ◽  
Maria Rodriguez-Peiris ◽  
Carmen Garcia-Ruiz ◽  
Jose Carlos Fernandez-Checa
Keyword(s):  
Down Syndrome ◽  
Alzheimer Disease ◽  
Cholesterol Trafficking ◽  
Postmortem Brains ◽  
Intracellular Cholesterol

scholarly journals Niemann-Pick Type C Disease and Intracellular Cholesterol Trafficking

2005 ◽  
Vol 280 (22) ◽  
pp. 20917-20920 ◽  
Author(s):  
Ta-Yuan Chang ◽  
Patrick C. Reid ◽  
Shigeki Sugii ◽  
Nobutaka Ohgami ◽  
Jonathan C. Cruz ◽  
...  
Keyword(s):  
Cholesterol Trafficking ◽  
Type C ◽  
Intracellular Cholesterol ◽  
Niemann Pick

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

Neurogenetics ◽  
2015 ◽  
Vol 17 (1) ◽  
pp. 51-56 ◽  
Author(s):  
María Elena Rodríguez-García ◽  
Elena Martín-Hernández ◽  
Ana Martínez de Aragón ◽  
María Teresa García-Silva ◽  
Pilar Quijada-Fraile ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Cholesterol Trafficking ◽  
Intracellular Cholesterol
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