Therapy of Niemann - Pick disease, type C

Marc C. Patterson, Frances Platt

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

Niemann - Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.

Original languageEnglish (US)
Pages (from-to)77-82
Number of pages6
JournalBiochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Volume1685
Issue number1-3
DOIs
StatePublished - Oct 11 2004
Externally publishedYes

Fingerprint

Type C Niemann-Pick Disease
Poisons
Neurodegenerative Diseases
Genetic Therapy
Cell Death
Apoptosis
Lipids
Therapeutics
Proteins

Keywords

  • Gene
  • Niemann - Pick disease
  • Therapy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Biophysics

Cite this

Therapy of Niemann - Pick disease, type C. / Patterson, Marc C.; Platt, Frances.

In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1685, No. 1-3, 11.10.2004, p. 77-82.

Research output: Contribution to journalArticle

Patterson, Marc C. ; Platt, Frances. / Therapy of Niemann - Pick disease, type C. In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids. 2004 ; Vol. 1685, No. 1-3. pp. 77-82.
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