Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Peter G. Pentchev"'
Autor:
Peter G. Pentchev, David A. Wenger, Robert Rousson, Marcella E. Comly, Marie T. Vanier, Roscoe O. Brady
Publikováno v:
Clinical Genetics. 33:331-348
Seventy patients were selected to cover the range of variability in clinical expression of Niemann-Pick disease group C (NP-C). Their individual main clinical features and course of the disease (age at discovery and type of visceromegaly, age at onse
Autor:
Peter G. Pentchev
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1685:3-7
Understanding the molecular basis of Niemann-Pick C (NP-C) disease took decades of struggle. Here I describe our early efforts to unravel the complex lipid storage found in NP-C tissues, and how the mouse model for NP-C pointed us in the right direct
Autor:
Yujing Liu, Kinuko Suzuki, Katherine A. Mullin, Marie T. Vanier, Peter G. Pentchev, Edward B. Neufeld, Richard L. Proia, Ryuichi Wada, Yun-Ping Wu, April C. Howard
Publikováno v:
Human Molecular Genetics. 9:1087-1092
Niemann-Pick disease Type C (NP-C) is a progressive neurodegenerative disorder caused by mutations in the NPC1 gene and characterized by intracellular accumulation of cholesterol and sphingo-lipids. The major neuronal storage material in NP-C consist
Autor:
Jane M. Glick, Jerome F. Strauss, Shutish Patel, Hidemichi Watari, Peter G. Pentchev, E. Joan Blanchette-Mackie, Edward B. Neufeld, Gwo-Shing Sun, Nancy K. Dwyer
Publikováno v:
Experimental Cell Research. 255:56-66
Steroidogenic cells represent unique systems for the exploration of intracellular cholesterol trafficking. We employed cytochemical and biochemical methods to explore the expression, regulation, and function of the Niemann-Pick C1 protein (NPC1) in h
Autor:
James W. Nagle, Dana Zhang, Katherine G. Coleman, Peter G. Pentchev, Eugene D. Carstea, Jill A. Morris
Publikováno v:
Biochemical and Biophysical Research Communications. 261:493-498
Niemann-Pick C (NP-C) is a fatal autosomal recessive storage disorder characterized by progressive neurodegeneration and variable hepatosplenomegaly. At the cellular level, cells derived from an affected individual accumulate unesterified cholesterol
Autor:
John P. Incardona, Adele Cooney, Roscoe O. Brady, Eugene D. Carstea, Calvin F. Roff, Nancy K. Dwyer, E. Joan Blanchette-Mackie, Marc C. Patterson, Peter G. Pentchev, Edward B. Neufeld, Jerome F. Strauss, Kousaku Ohno, Sundar Suresh, Shutish C. Patel, Marie T. Vanier, Meryl E. Wastney, Jill A. Morris
Publikováno v:
Journal of Biological Chemistry. 274:9627-9635
Niemann-Pick C disease (NP-C) is a neurovisceral lysosomal storage disorder. A variety of studies have highlighted defective sterol trafficking from lysosomes in NP-C cells. However, the heterogeneous nature of additional accumulating metabolites sug
Autor:
Edward B. Neufeld, Peter G. Pentchev, S Suresh, Ramesh C. Patel, Wei-Yi Ong, C. Y. Hu, Roscoe O. Brady, Yogesh C. Patel, Adele Cooney, E J Blanchette-Mackie, Shutish C. Patel, Ujendra Kumar
Publikováno v:
Proceedings of the National Academy of Sciences. 96:1657-1662
Niemann–Pick type C disease (NP-C) is an inherited neurovisceral lipid storage disorder characterized by progressive neurodegeneration. Most cases of NP-C result from inactivating mutations of NPC1 , a recently identified member of a family of gene
Autor:
E. Joan Blanchette-Mackie, Roscoe O. Brady, Nancy K. Dwyer, Jerome F. Strauss, Shutish C. Patel, Edward B. Neufeld, Hidemichi Watari, Jane M. Glick, Peter G. Pentchev
Publikováno v:
Proceedings of the National Academy of Sciences. 96:805-810
Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder that affects the viscera and central nervous system. A characteristic feature of NPC cells is the lysosomal accumulation of low density lipoprotein-derived cholesterol. To eluci
Publikováno v:
Biochemical Pharmacology. 56:1195-1199
Niemann–Pick type C disease is an inherited disorder characterized by lysosomal accumulation of cholesterol and the mutant gene has recently been identified. The predicted gene product is a transmembrane protein showing homology to proteins involve
Autor:
J M VandenBroek, L A Zech, Peter G. Pentchev, H B Brewer, R D Phair, C C Schwartz, Robert D. Shamburek, Edward B. Neufeld, Roscoe O. Brady, E D Carstea, P S Cooper, Joan Blanchette-Mackie
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 12, Pp 2422-2435 (1997)
Niemann-Pick C disease (NP-C) is a rare inborn error of metabolism with hepatic involvement and neurological sequelae that usually manifest in childhood. Although in vitro studies have shown that the lysosomal distribution of LDL-derived cholesterol