Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
- 1 November 2015
- journal article
- research article
- Published by Elsevier BV in Neurobiology of Disease
- Vol. 83, 44-53
- https://doi.org/10.1016/j.nbd.2015.08.006
Abstract
No abstract availableKeywords
Funding Information
- Instituto de Salud Carlos III (PI 10/02873, PI13/00314)
- European Regional Development Fund, FEDER, Xunta de Galicia (10PXIB208013PR)
- Fundación Mehuer
- Spanish Ministry of Economy and Competitiveness (SAF2013-45014-R)
This publication has 42 references indexed in Scilit:
- Untangling the web: Mechanisms underlying ER network formationBiochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2013
- Seipin: from human disease to molecular mechanismJournal of Lipid Research, 2012
- Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesisJournal of Lipid Research, 2011
- Seipin Is a Discrete HomooligomerBiochemistry, 2010
- Functions and pathologies of BiP and its interaction partnersCellular and Molecular Life Sciences, 2009
- DAVID: Database for Annotation, Visualization, and Integrated DiscoveryGenome Biology, 2003
- A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancerGenes & Development, 2002
- Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein α-SynucleinJournal of Biological Chemistry, 2002
- Nonsense-mediated mRNA decayin health and diseaseHuman Molecular Genetics, 1999
- Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD MutationCell, 1997