scholarly journals ACAT1-associated Late Endosomes/Lysosomes Significantly Improve Impaired Intracellular Cholesterol Metabolism and the Survival of Niemann-Pick Type C Mice

2014 ◽  
Vol 47 (2) ◽  
pp. 35-43 ◽  
Author(s):  
Masashi Kamikawa ◽  
XiaoFeng Lei ◽  
Yukio Fujiwara ◽  
Kazuchika Nishitsuji ◽  
Hiroshi Mizuta ◽  
...  
Keyword(s):  
Cholesterol Metabolism ◽  
Late Endosomes ◽  
Type C ◽  
Intracellular Cholesterol ◽  
Niemann Pick

Regulation of intracellular cholesterol metabolism is defective in lymphoblasts from Niemann-Pick type C and type D patients

1994 ◽  
Vol 1226 (2) ◽  
pp. 173-180 ◽  
Author(s):  
David M. Byers ◽  
Jo-Anne Douglas ◽  
Harold W. Cook ◽  
Frederick B.St.C. Palmer ◽  
Neale D. Ridgway
Keyword(s):  
Cholesterol Metabolism ◽  
Type D ◽  
Type C ◽  
Intracellular Cholesterol ◽  
Niemann Pick

scholarly journals A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease

1992 ◽  
Vol 17 (4) ◽  
pp. 229-236 ◽  
Author(s):  
Kousaku Ohno ◽  
Eiji Nanba ◽  
Shigeki Miyawaki ◽  
Takeshi Sakiyama ◽  
Teruo Kitagawa ◽  
...  
Keyword(s):  
Cell Line ◽  
Cholesterol Metabolism ◽  
Niemann Pick Disease ◽  
A Cell ◽  
Type C ◽  
Intracellular Cholesterol ◽  
Niemann Pick ◽  
Pick Disease

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

scholarly journals Intracellular sphingosine releases calcium from lysosomes

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Doris Höglinger ◽  
Per Haberkant ◽  
Auxiliadora Aguilera-Romero ◽  
Howard Riezman ◽  
Forbes D Porter ◽  
...  
Keyword(s):  
Calcium Release ◽  
Pore Channel ◽  
Niemann Pick Disease ◽  
Late Endosomes ◽  
Sphingosine 1 Phosphate ◽  
Transcription Factor Eb ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease ◽  
Er Calcium

To elucidate new functions of sphingosine (Sph), we demonstrate that the spontaneous elevation of intracellular Sph levels via caged Sph leads to a significant and transient calcium release from acidic stores that is independent of sphingosine 1-phosphate, extracellular and ER calcium levels. This photo-induced Sph-driven calcium release requires the two-pore channel 1 (TPC1) residing on endosomes and lysosomes. Further, uncaging of Sph leads to the translocation of the autophagy-relevant transcription factor EB (TFEB) to the nucleus specifically after lysosomal calcium release. We confirm that Sph accumulates in late endosomes and lysosomes of cells derived from Niemann-Pick disease type C (NPC) patients and demonstrate a greatly reduced calcium release upon Sph uncaging. We conclude that sphingosine is a positive regulator of calcium release from acidic stores and that understanding the interplay between Sph homeostasis, calcium signaling and autophagy will be crucial in developing new therapies for lipid storage disorders such as NPC.

A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Ayhan Yaman ◽  
Fatma T. Eminoğlu ◽  
Tanıl Kendirli ◽  
Çağlar Ödek ◽  
Serdar Ceylaner ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Neurological Dysfunction ◽  
Lipid Storage Disease ◽  
Niemann Pick Disease ◽  
Late Endosomes ◽  
Type C ◽  
Alveolar Proteinosis ◽  
Niemann Pick ◽  
Pick Disease

AbstractNiemann-Pick disease type C (NPC) is a fatal autosomal recessive lipid storage disease associated with impaired trafficking of unesterified cholesterol and glycolipids in lysosomes and late endosomes. This disease is commonly characterized by hepatosplenomegaly and severe progressive neurological dysfunction. There are two defective genes that cause this illness. One of these genes is

scholarly journals Embryonic Striatal Neurons from Niemann-Pick Type C Mice Exhibit Defects in Cholesterol Metabolism and Neurotrophin Responsiveness

2000 ◽  
Vol 275 (26) ◽  
pp. 20179-20187 ◽  
Author(s):  
Leslie P. Henderson ◽  
Li Lin ◽  
Anita Prasad ◽  
Colleen A. Paul ◽  
Ta Yuan Chang ◽  
...  
Keyword(s):  
Cholesterol Metabolism ◽  
Striatal Neurons ◽  
Type C ◽  
Niemann Pick

scholarly journals The Tetraspanin CD63/lamp3 Cycles between Endocytic and Secretory Compartments in Human Endothelial Cells

2000 ◽  
Vol 11 (5) ◽  
pp. 1829-1843 ◽  
Author(s):  
Toshihide Kobayashi ◽  
Ulrich M. Vischer ◽  
Corinne Rosnoblet ◽  
Cécile Lebrand ◽  
Margaret Lindsay ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Plasma Membrane ◽  
Late Endosome ◽  
Human Endothelial Cells ◽  
Late Endosomes ◽  
Lysobisphosphatidic Acid ◽  
Type C ◽  
Niemann Pick ◽  
Tetraspanin Cd63

In the present study, we show that in human endothelial cells the tetraspanin CD63/lamp3 distributes predominantly to the internal membranes of multivesicular–multilamellar late endosomes, which contain the unique lipid lysobisphosphatidic acid. Some CD63/lamp3 is also present in Weibel–Palade bodies, the characteristic secretory organelle of these cells. We find that CD63/lamp3 molecules can be transported from late endosomes to Weibel–Palade bodies and thus that CD63/lamp3 cycles between endocytic and biosynthetic compartments; however, movement of CD63/lamp3 is much slower than that of P-selectin, which is known to cycle between plasma membrane and Weibel–Palade bodies. When cells are treated with U18666A, a drug that mimics the Niemann-Pick type C syndrome, both proteins accumulate in late endosomes and fail to reach Weibel–Palade bodies efficiently, suggesting that P-selectin, like CD63/lamp3, cycles via late endosomes. Our data suggest that CD63/lamp3 partitions preferentially within late endosome internal membranes, thus causing its accumulation, and that this mechanism contributes to CD63/lamp3 retention in late endosomes; however, our data also indicate that the protein can eventually escape from these internal membranes and recycle toward Weibel–Palade bodies to be reused. Our observations thus uncover the existence of a selective trafficking route from late endosomes to Weibel–Palade bodies.

scholarly journals The Fruit Fly Drosophila melanogaster as a Model System to Study Cholesterol Metabolism and Homeostasis

Cholesterol ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Ryusuke Niwa ◽  
Yuko S. Niwa
Keyword(s):  
Drosophila Melanogaster ◽  
Steroid Hormones ◽  
Molecular Mechanisms ◽  
Cholesterol Metabolism ◽  
Cholesterol Biosynthesis ◽  
Fruit Fly ◽  
Model System ◽  
Biophysical Properties ◽  
Type C ◽  
Niemann Pick

Cholesterol has long been recognized for its versatile roles in influencing the biophysical properties of cell membranes and for serving as a precursor of steroid hormones. While many aspects of cholesterol biosynthesis are well understood, little is currently known about the molecular mechanisms of cholesterol metabolism and homeostasis. Recently, genetic approaches in the fruit fly, Drosophila melanogaster, have been successfully used for the analysis of molecular mechanisms that regulate cholesterol metabolism and homeostasis. This paper summarizes the recent studies on genes that regulate cholesterol metabolism and homeostasis, including neverland, Niemann Pick type C(NPC) disease genes, and DHR96.

Sign in / Sign up

Export Citation Format

Share Document