Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology
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Title
Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 4, Pages 497-504
Publisher
Wiley
Online
2014-01-29
DOI
10.1002/humu.22521
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Related references
Note: Only part of the references are listed.- Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
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- (2012) Christelle Tesson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
- (2012) Gladys Montenegro et al. JOURNAL OF CLINICAL INVESTIGATION
- Is fat so bad? Modulation of endoplasmic reticulum stress by lipid droplet formation
- (2011) Ivan Hapala et al. BIOLOGY OF THE CELL
- REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- (2011) Cyril Goizet et al. HUMAN MUTATION
- Packaging of Fat: An Evolving Model of Lipid Droplet Assembly and Expansion
- (2011) Dawn L. Brasaemle et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Not Just Fat: The Structure and Function of the Lipid Droplet
- (2011) T. Fujimoto et al. Cold Spring Harbor Perspectives in Biology
- Emerging themes of ER organization in the development and maintenance of axons
- (2010) Benoît Renvoisé et al. CURRENT OPINION IN NEUROBIOLOGY
- Further assembly required: construction and dynamics of the endoplasmic reticulum network
- (2010) Seong H Park et al. EMBO REPORTS
- Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
- (2010) Seong H. Park et al. JOURNAL OF CLINICAL INVESTIGATION
- Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis
- (2009) Rebecca Schüle et al. JOURNAL OF LIPID RESEARCH
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
- (2008) Katharina J Schlang et al. BMC Medical Genetics
- REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
- (2008) Christian Beetz et al. BRAIN
- Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
- (2008) Weihua Fei et al. JOURNAL OF CELL BIOLOGY
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