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

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers 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

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p

(2012) Hiroki Inoue et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress

(2011) Takuya Yagi et al.   HUMAN MOLECULAR GENETICS

Effects on DHEA levels by estrogen in rat astrocytes and CNS co-cultures via the regulation of CYP7B1-mediated metabolism

(2011) Åsa Fex Svenningsen et al.   NEUROCHEMISTRY INTERNATIONAL

A Role for Phosphatidic Acid in the Formation of “Supersized” Lipid Droplets

(2011) Weihua Fei et al.   PLoS Genetics

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells

(2010) Sei-ichi Sato et al.   FEBS LETTERS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

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

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

(2009) Hiroko Hama   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Seipin deficiency alters fatty acid Δ9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

(2009) Emilie Boutet et al.   BIOCHIMIE

Intracellular Phospholipase A1γ (iPLA1γ) Is a Novel Factor Involved in Coat Protein Complex I- and Rab6-independent Retrograde Transport between the Endoplasmic Reticulum and the Golgi Complex

(2009) Rei K. Morikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

(2009) Scott W. Eastman et al.   JOURNAL OF CELL BIOLOGY

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS