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

Altered macroautophagy in the spinal cord of SOD1 mutant mice

(2014) Liang Li et al.   Autophagy

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 GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TECPR2

(2013) Danit Oz-Levi et al.   Autophagy

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi 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

The BECN1 coiled coil domain

(2012) Xiaohua Li et al.   Autophagy

Beclin1: A role in membrane dynamics and beyond

(2012) Ellen Wirawan et al.   Autophagy

Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy

(2012) Véronique Schaeffer et al.   BRAIN

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Autophagy modulation as a potential therapeutic target for diverse diseases

(2012) David C. Rubinsztein et al.   NATURE REVIEWS DRUG DISCOVERY

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Imperfect interface of Beclin1 coiled-coil domain regulates homodimer and heterodimer formation with Atg14L and UVRAG

(2012) Xiaohua Li et al.   Nature Communications

Molecular machinery of macroautophagy and its deregulation in diseases

(2011) Alan S.L. Wong et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

(2011) Chiara Vantaggiato et al.   BRAIN

The Beclin 1 network regulates autophagy and apoptosis

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

Autophagic substrate clearance requires activity of the syntaxin-5 SNARE complex

(2011) M. Renna et al.   JOURNAL OF CELL SCIENCE

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

Atypical juvenile parkinsonism in a consanguineous SPG15 family

(2011) Julia Schicks et al.   MOVEMENT DISORDERS

Autophagy in immunity and inflammation

(2011) Beth Levine et al.   NATURE

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

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

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

Autophagy and Cancer

(2011) L. Y. Mah et al.   Cold Spring Harbor Perspectives in Biology

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Cytoprotective roles for autophagy

(2010) Kevin Moreau et al.   CURRENT OPINION IN CELL BIOLOGY

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

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

The RUN Domain of Rubicon Is Important for hVps34 Binding, Lipid Kinase Inhibition, and Autophagy Suppression

(2010) Qiming Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

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

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

Autophagy and Metabolism

(2010) J. D. Rabinowitz et al.   SCIENCE

Autophagy in neurodegenerative disorders: pathogenic roles and therapeutic implications

(2010) Rebecca Banerjee et al.   TRENDS IN NEUROSCIENCES

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

(2009) A Boukhris et al.   CLINICAL GENETICS

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

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

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

Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1–phosphatidylinositol-3-kinase complex

(2009) Yun Zhong et al.   NATURE CELL BIOLOGY

Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages

(2009) Kohichi Matsunaga et al.   NATURE CELL BIOLOGY

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

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

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

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 in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Nutrient Deprivation Induces Neuronal Autophagy and Implicates Reduced Insulin Signaling in Neuroprotective Autophagy Activation

(2008) Jessica E. Young et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Beclin 1 Forms Two Distinct Phosphatidylinositol 3-Kinase Complexes with Mammalian Atg14 and UVRAG

(2008) Eisuke Itakura et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Chengyu Liang et al.   NATURE CELL BIOLOGY

In developing hippocampal neurons, NR2B-containing N-methyl-d-aspartate receptors (NMDARs) can mediate signaling to neuronal survival and synaptic potentiation, as well as neuronal death

(2008) M.-A. Martel et al.   NEUROSCIENCE

Identification of Barkor as a mammalian autophagy-specific factor for Beclin 1 and class III phosphatidylinositol 3-kinase

(2008) Q. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA