Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model

(2016) Himanshu K. Mishra et al.   ANNALS OF NEUROLOGY

Endosome-ER Contacts Control Actin Nucleation and Retromer Function through VAP-Dependent Regulation of PI4P

(2016) Rui Dong et al.   CELL

Endolysosomes Are the Principal Intracellular Sites of Acid Hydrolase Activity

(2016) Nicholas A. Bright et al.   CURRENT BIOLOGY

The position of lysosomes within the cell determines their luminal pH

(2016) Danielle E. Johnson et al.   JOURNAL OF CELL BIOLOGY

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin

(2016) James W. Connell et al.   PLoS One

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

(2015) M. Hashim Raza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ER-endosome contact sites: molecular compositions and functions

(2015) C. Raiborg et al.   EMBO JOURNAL

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

(2015) Jennifer Hirst et al.   HUMAN MOLECULAR GENETICS

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques

(2015) Swetha Gowrishankar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure and membrane remodeling activity of ESCRT-III helical polymers

(2015) J. McCullough et al.   SCIENCE

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

(2015) Rita-Eva Varga et al.   PLoS Genetics

ER Contact Sites Define the Position and Timing of Endosome Fission

(2014) Ashley A. Rowland et al.   CELL

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

(2014) S. Havlicek et al.   HUMAN MOLECULAR GENETICS

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Mitophagy of damaged mitochondria occurs locally in distal neuronal axons and requires PINK1 and Parkin

(2014) Ghazaleh Ashrafi et al.   JOURNAL OF CELL BIOLOGY

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

(2014) Hiroyuki Ishiura et al.   JOURNAL OF HUMAN GENETICS

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

(2014) Anke Hensiek et al.   JOURNAL OF NEUROLOGY

Genome-wide RNAi Screen Reveals a Role for Multipass Membrane Proteins in Endosome-to-Golgi Retrieval

(2014) Sophia Y. Breusegem et al.   Cell Reports

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome

(2013) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

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

Endoplasmic reticulum–endosome contact increases as endosomes traffic and mature

(2013) Jonathan R. Friedman et al.   MOLECULAR BIOLOGY OF THE CELL

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

Molecular Mechanisms of the Membrane Sculpting ESCRT Pathway

(2013) W. M. Henne et al.   Cold Spring Harbor Perspectives in Biology

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

(2012) Caroline Freeman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The retromer complex - endosomal protein recycling and beyond

(2012) M. N. J. Seaman   JOURNAL OF CELL SCIENCE

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

The AAA ATPase spastin links microtubule severing to membrane modelling

(2011) Jennifer H. Lumb et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Weaving the Web of ER Tubules

(2011) Junjie Hu et al.   CELL

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

(2010) M. E. Harbour et al.   JOURNAL OF CELL SCIENCE

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

SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis

(2010) Benoît Renvoisé et al.   MOLECULAR BIOLOGY OF THE CELL

Membrane contacts between endosomes and ER provide sites for PTP1B–epidermal growth factor receptor interaction

(2010) Emily R. Eden et al.   NATURE CELL BIOLOGY

Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5

(2009) Thomas L. Edwards et al.   BIOCHEMICAL JOURNAL

The Arp2/3 Activator WASH Controls the Fission of Endosomes through a Large Multiprotein Complex

(2009) Emmanuel Derivery et al.   DEVELOPMENTAL CELL

A FAM21-Containing WASH Complex Regulates Retromer-Dependent Sorting

(2009) Timothy S. Gomez et al.   DEVELOPMENTAL CELL

Essential Role of hIST1 in Cytokinesis

(2009) Monica Agromayor et al.   MOLECULAR BIOLOGY OF THE CELL

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B

(2008) Dong Yang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

(2008) James W. Connell et al.   TRAFFIC