Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

(2013) Michael Gonzalez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

(2013) Christian Beetz et al.   JOURNAL OF CLINICAL INVESTIGATION

A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size

(2013) Robin W. Klemm et al.   Cell Reports

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(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