Literature DB >> 20059748

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.

Emyr Lloyd-Evans1, Frances M Platt.   

Abstract

Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. We review the potential role of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge.

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20059748     DOI： 10.1111/j.1600-0854.2010.01032.x

Source DB:  PubMed          Journal:  Traffic        ISSN： 1398-9219            Impact factor:   6.215


  93 in total

1.  Elevation of GM2 ganglioside during ethanol-induced apoptotic neurodegeneration in the developing mouse brain.

Authors:  Mitsuo Saito; Goutam Chakraborty; Relish Shah; Rui-Fen Mao; Asok Kumar; Dun-Sheng Yang; Kostantin Dobrenis; Mariko Saito
Journal:  J Neurochem       Date:  2012-03-20       Impact factor: 5.372

Review 2.  Common and uncommon pathogenic cascades in lysosomal storage diseases.

Authors:  Einat B Vitner; Frances M Platt; Anthony H Futerman
Journal:  J Biol Chem       Date:  2010-04-29       Impact factor: 5.157

3.  FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.

Authors:  Jason Newton; Nitai C Hait; Michael Maceyka; Alexandria Colaco; Melissa Maczis; Christopher A Wassif; Antony Cougnoux; Forbes D Porter; Sheldon Milstien; Nicholas Platt; Frances M Platt; Sarah Spiegel
Journal:  FASEB J       Date:  2017-01-12       Impact factor: 5.191

Review 4.  The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.

Authors:  Michael Maceyka; Sheldon Milstien; Sarah Spiegel
Journal:  FEBS J       Date:  2013-09-23       Impact factor: 5.542

5.  Attenuation of the lysosomal death pathway by lysosomal cholesterol accumulation.

Authors:  Hanna Appelqvist; Cathrine Nilsson; Brett Garner; Andrew J Brown; Katarina Kågedal; Karin Ollinger
Journal:  Am J Pathol       Date:  2011-02       Impact factor: 4.307

6.  Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects.

Authors:  Maximilian J Feldman; Brenton C Poirier; B Markus Lange
Journal:  Planta       Date:  2015-05-26       Impact factor: 4.116

7.  [International Children's Day].

Authors: 
Journal:  Pediatriia       Date:  1977-06

8.  Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.

Authors:  Niklas Mattsson; Henrik Zetterberg; Simona Bianconi; Nicole M Yanjanin; Rao Fu; Jan-Eric Månsson; Forbes D Porter; Kaj Blennow
Journal:  JIMD Rep       Date:  2011-09-28

9.  Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease.

Authors:  Kanagaraj Subramanian; Navin Rauniyar; Mathieu Lavalleé-Adam; John R Yates; William E Balch
Journal:  Mol Cell Proteomics       Date:  2017-08-31       Impact factor: 5.911

Review 10.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.