ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

(2016) Rebecca Schüle et al.   ANNALS OF NEUROLOGY

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

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

Hereditary spastic paraplegia type 11 with a very late onset

(2015) Anna Rubegni et al.   JOURNAL OF NEUROLOGY

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

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

ZFYVE26/SPASTIZIN

(2014) Chiara Vantaggiato et al.   Autophagy

The autophagic roles of Rab small GTPases and their upstream regulators

(2014) Zsuzsanna Szatmári et al.   Autophagy

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

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

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

(2014) Maria Pia Giannoccaro et al.   JOURNAL OF NEUROLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Endocytosis and Autophagy: Exploitation or Cooperation?

(2014) S. A. Tooze et al.   Cold Spring Harbor Perspectives in Biology

Souffle/Spastizin Controls Secretory Vesicle Maturation during Zebrafish Oogenesis

(2014) Palsamy Kanagaraj et al.   PLoS Genetics

Beclin 1 Is Required for Neuron Viability and Regulates Endosome Pathways via the UVRAG-VPS34 Complex

(2014) Nicole C. McKnight et al.   PLoS Genetics

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

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

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

Rab11 facilitates cross-talk between autophagy and endosomal pathway through regulation of Hook localization

(2013) Zsuzsanna Szatmári et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2013) Mukhran Khundadze et al.   PLoS Genetics

Rab11 proteins in health and disease

(2012) Eoin E. Kelly et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Maturation of autophagosomes and endosomes: A key role for Rab7

(2012) Juha M.T. Hyttinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Diacylglycerol kinase α regulates the formation and polarisation of mature multivesicular bodies involved in the secretion of Fas ligand-containing exosomes in T lymphocytes

(2011) R Alonso et al.   CELL DEATH AND DIFFERENTIATION

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

(2011) Reena Prity Murmu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling

(2011) Michal Bohdanowicz et al.   MOLECULAR BIOLOGY OF THE CELL

A Tumor-Associated Mutation of FYVE-CENT Prevents Its Interaction with Beclin 1 and Interferes with Cytokinesis

(2011) Antonia P. Sagona et al.   PLoS One

Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant

(2010) Ananthamurthy Nagabhushana et al.   BMC CELL BIOLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

A phosphatidylinositol 3-kinase class III sub-complex containing VPS15, VPS34, Beclin 1, UVRAG and BIF-1 regulates cytokinesis and degradative endocytic traffic

(2010) Sigrid B. Thoresen et al.   EXPERIMENTAL CELL RESEARCH

Autophagy requires endoplasmic reticulum targeting of the PI3-kinase complex via Atg14L

(2010) Kohichi Matsunaga et al.   JOURNAL OF CELL BIOLOGY

Rubicon and PLEKHM1 Negatively Regulate the Endocytic/Autophagic Pathway via a Novel Rab7-binding Domain

(2010) Keisuke Tabata et al.   MOLECULAR BIOLOGY OF THE CELL

Termination of autophagy and reformation of lysosomes regulated by mTOR

(2010) Li Yu et al.   NATURE

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

(2010) Antonia P. Sagona et al.   NATURE CELL BIOLOGY

Rubicon controls endosome maturation as a Rab7 effector

(2010) Q. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

(2009) Isabelle Vergne et al.   EMBO JOURNAL

A novelCLN8mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

(2009) Chiara Vantaggiato et al.   HUMAN MUTATION

Early endosomes and endosomal coatomer are required for autophagy

(2009) Minoo Razi et al.   JOURNAL OF CELL BIOLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy and multivesicular bodies: two closely related partners

(2008) C M Fader et al.   CELL DEATH AND DIFFERENTIATION

Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease

(2008) B. Ravikumar et al.   JOURNAL OF CELL SCIENCE

Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking

(2008) Chengyu Liang et al.   NATURE CELL BIOLOGY