The pathophysiology and mechanisms of NP-C disease

Stephen L. Sturley; Marc C. Patterson; William Balch; Laura Liscum

doi:10.1016/j.bbalip.2004.08.014

The pathophysiology and mechanisms of NP-C disease

Stephen L. Sturley, Marc C. Patterson, William Balch, Laura Liscum

Neurology

Research output: Contribution to journal › Review article › peer-review

119 Scopus citations

Abstract

The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann - Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome and thus of human intracellular sterol transport. Despite this, neither the mechanisms of action nor the substrates for these putative transporters have been defined. In this overview, we describe our perspectives on the current awareness of the genetic determination and cellular biology of this syndrome, with emphasis on the underlying events that lead to neurodegeneration and the manner in which they might eventually be treated.

Original language	English (US)
Pages (from-to)	83-87
Number of pages	5
Journal	Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Volume	1685
Issue number	1-3
DOIs	https://doi.org/10.1016/j.bbalip.2004.08.014
State	Published - Oct 11 2004

Keywords

Cholesterol
NPC1
NPC2
Neurodegeneration
Niemann - Pick type C
Sphingolipid

ASJC Scopus subject areas

Molecular Biology
Cell Biology

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10.1016/j.bbalip.2004.08.014

Cite this

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title = "The pathophysiology and mechanisms of NP-C disease",

abstract = "The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann - Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome and thus of human intracellular sterol transport. Despite this, neither the mechanisms of action nor the substrates for these putative transporters have been defined. In this overview, we describe our perspectives on the current awareness of the genetic determination and cellular biology of this syndrome, with emphasis on the underlying events that lead to neurodegeneration and the manner in which they might eventually be treated.",

keywords = "Cholesterol, NPC1, NPC2, Neurodegeneration, Niemann - Pick type C, Sphingolipid",

author = "Sturley, {Stephen L.} and Patterson, {Marc C.} and William Balch and Laura Liscum",

note = "Funding Information: The authors thank the Ara Parseghian Medical Research Foundation and the National Niemann–Pick Disease Foundation for providing the forums for stimulating discussion of Niemann–Pick C research and therapeutic strategies.",

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AU - Sturley, Stephen L.

AU - Patterson, Marc C.

AU - Balch, William

AU - Liscum, Laura

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N2 - The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann - Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome and thus of human intracellular sterol transport. Despite this, neither the mechanisms of action nor the substrates for these putative transporters have been defined. In this overview, we describe our perspectives on the current awareness of the genetic determination and cellular biology of this syndrome, with emphasis on the underlying events that lead to neurodegeneration and the manner in which they might eventually be treated.

AB - The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann - Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome and thus of human intracellular sterol transport. Despite this, neither the mechanisms of action nor the substrates for these putative transporters have been defined. In this overview, we describe our perspectives on the current awareness of the genetic determination and cellular biology of this syndrome, with emphasis on the underlying events that lead to neurodegeneration and the manner in which they might eventually be treated.

KW - Cholesterol

KW - NPC1

KW - NPC2

KW - Neurodegeneration

KW - Niemann - Pick type C

KW - Sphingolipid

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The pathophysiology and mechanisms of NP-C disease

Abstract

Keywords

ASJC Scopus subject areas

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