Abstract
Niemann-Pick disease type C (NP-C) is an inherited disorder that is characterized biochemically by cellular cholesterol and glycolipid storage, and clinically by progressive neurodegeneration. Most cases of NP-C are caused by inactivating mutations of the npc1 gene, but about 5% are linked to npc2, which encodes a soluble cholesterol binding protein, previously identified as epididymal secretory glycoprotein 1 (HE1). The present study was carried out to investigate the immunocytochemical localization of HE1/NPC2 protein in the mouse brain. Using an antibody against recombinant HE1/NPC2, we found HE1/NPC2 to be localized predominantly in neurons in the brain. Immunoreactivity for HE1/NPC2 was observed in pyramidal or projection neurons in the cerebral cortex and amygdala, and Purkinje neurons in the cerebellum. Neurons in the thalamus, hypothalamus, and globus pallidus were lightly labeled, or unlabeled. This regional pattern of expression of HE1/NPC2 is similar to our previous findings with NPC1, with a low level of expression of both NPC1 and HE1/NPC2 proteins in regions derived from the diencephalon, such as the thalamus and hypothalamus. In contrast to NPC1, however, which is predominantly in astrocytes, HE1/NPC2 was observe...Continue Reading
References
Mar 1, 1992·Journal of Neurochemistry·C D BlackstoneR L Huganir
Sep 1, 1980·The Journal of Cell Biology·R K CarlinP Siekevitz
Apr 1, 1996·Biology of Reproduction·C KirchhoffL Young
Jul 11, 1997·Science·E D CarsteaD A Tagle
Jan 14, 1998·Neuron·E B Ziff
Feb 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·S C PatelW Y Ong
Jun 15, 1999·Biochimica Et Biophysica Acta·N OkamuraY Z Jin
Oct 29, 2000·Science·M B Kennedy
Dec 23, 2000·Science·S NaureckieneP Lobel
Jun 21, 2001·Proceedings of the National Academy of Sciences of the United States of America·M Sheng
Sep 22, 2001·American Journal of Human Genetics·G MillatM T Vanier
Nov 26, 2002·Annals of Neurology·Hans H KlünemannWilliam W Pendlebury
Feb 20, 2003·Proceedings of the National Academy of Sciences of the United States of America·Dennis C KoMatthew P Scott
Feb 20, 2003·Proceedings of the National Academy of Sciences of the United States of America·Natalia FriedlandAnn M Stock
Apr 9, 2004·Proceedings of the National Academy of Sciences of the United States of America·David E SleatPeter Lobel
Citations
Jun 28, 2006·Biogerontology·Jillian R GeeJeffrey N Keller
Nov 1, 2011·Lipids·Elisa BalboaSilvana Zanlungo
Feb 9, 2010·Molecular Neurobiology·Wei-Yi OngAndrew M Jenner
Sep 11, 2012·Brain : a Journal of Neurology·K KollmannT Braulke
Mar 31, 2005·Seminars in Cell & Developmental Biology·Jean E VanceBarbara Karten
Jun 10, 2014·Molecular and Cellular Neurosciences·Isabelle Buard, Frank W Pfrieger
Dec 16, 2010·Journal of Neuropathology and Experimental Neurology·Markus DammeJudith Blanz
Jul 12, 2011·Progress in Lipid Research·Frank W Pfrieger, Nicole Ungerer
Jul 15, 2005·Journal of Neuroscience Research·C A PaulR A Maue
Jul 30, 2015·Traffic·Judith BlanzMichael Schwake
Aug 5, 2006·Neurobiology of Aging·Zeljka KoradeNina F Schor
Dec 24, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Andrés KleinSilvana Zanlungo
Mar 11, 2015·International Journal of Cancer. Journal International Du Cancer·Yi-Jen LiaoYi-Ming Arthur Chen
Apr 12, 2008·Neuropharmacology·Zeljka Korade, Anne K Kenworthy
Feb 16, 2015·Protein & Cell·Juan Zhang, Qiang Liu
May 31, 2016·Biochimica Et Biophysica Acta·Till KoehneThomas Braulke
Jan 8, 2017·Molecular & Cellular Proteomics : MCP·Sandra MarkmannMarkus Damme
Sep 14, 2018·Journal of Applied Genetics·Robert P Erickson
Aug 20, 2014·The Journal of Biological Chemistry·Björn KowalewskiMarkus Damme