Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

(2015) Esther Meyer et al.   Annual Review of Genomics and Human Genetics

The autophagy geneWdr45/Wipi4regulates learning and memory function and axonal homeostasis

(2015) Yan G Zhao et al.   Autophagy

Autism and the synapse

(2015) Darius Ebrahimi-Fakhari et al.   CURRENT OPINION IN NEUROLOGY

Autophagy in malignant transformation and cancer progression

(2015) L. Galluzzi et al.   EMBO JOURNAL

Axonal autophagosomes recruit dynein for retrograde transport through fusion with late endosomes

(2015) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export

(2015) Daniela Stadel et al.   MOLECULAR CELL

PI(5)P Regulates Autophagosome Biogenesis

(2015) Mariella Vicinanza et al.   MOLECULAR CELL

Nutrient-sensing mechanisms and pathways

(2015) Alejo Efeyan et al.   NATURE

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

(2015) Kenya Nishioka et al.   NEUROBIOLOGY OF AGING

Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model

(2015) Y. Li et al.   NEUROSCIENCE

Diffusion Efficiency and Bioavailability of Resveratrol Administered to Rat Brain by Different Routes: Therapeutic Implications

(2015) Xiao-Hong Shu et al.   Neurotherapeutics

Tuberous Sclerosis Complex

(2015) Francis J. DiMario et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

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

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

Oligomerization of p62 allows for selection of ubiquitinated cargo and isolation membrane during selective autophagy

(2015) Bettina Wurzer et al.   eLife

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

(2015) R. Paudel et al.   Acta Neuropathologica Communications

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

(2015) Gianina Ravenscroft et al.   BRAIN

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

(2014) Anna C. Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelWDR45mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

(2014) Tadashi Ozawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon ofEPG5and review of the literature

(2014) Nadja Ehmke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ZFYVE26/SPASTIZIN

(2014) Chiara Vantaggiato et al.   Autophagy

MTOR-independent, autophagic enhancer trehalose prolongs motor neuron survival and ameliorates the autophagic flux defect in a mouse model of amyotrophic lateral sclerosis

(2014) Xiaojie Zhang et al.   Autophagy

Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease

(2014) Sovan Sarkar et al.   Autophagy

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

(2014) Viviana Pensato et al.   BRAIN

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

To Be or Not to Be? How Selective Autophagy and Cell Death Govern Cell Fate

(2014) Douglas R. Green et al.   CELL

Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease

(2014) Sara Duarte-Silva et al.   CEREBELLUM

Autophagosome Biogenesis in Primary Neurons Follows an Ordered and Spatially Regulated Pathway

(2014) Sandra Maday et al.   DEVELOPMENTAL CELL

Molecular aspects of hereditary spastic paraplegia

(2014) Anne Noreau et al.   EXPERIMENTAL CELL RESEARCH

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1

(2014) Alessia Di Nardo et al.   HUMAN MOLECULAR GENETICS

Structural Basis for Different Phosphoinositide Specificities of the PX Domains of Sorting Nexins Regulating G-protein Signaling

(2014) Caroline Mas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Organellophagy: Eliminating cellular building blocks via selective autophagy

(2014) Koji Okamoto   JOURNAL OF CELL BIOLOGY

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

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

Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex

(2014) Ning Liang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

(2014) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

Ophthalmologic Features of Vici Syndrome

(2014) Francis M. Filloux et al.   JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

Early Steps in Autophagy Depend on Direct Phosphorylation of Atg9 by the Atg1 Kinase

(2014) Daniel Papinski et al.   MOLECULAR CELL

Autophagy in Antimicrobial Immunity

(2014) Ligia C. Gomes et al.   MOLECULAR CELL

Novel mutation of theWDR45gene causing beta-propeller protein-associated neurodegeneration

(2014) Geetanjali S. Rathore et al.   MOVEMENT DISORDERS

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy

(2014) Joseph D. Mancias et al.   NATURE

Cargo recognition and trafficking in selective autophagy

(2014) Alexandra Stolz et al.   NATURE CELL BIOLOGY

Bacteria–autophagy interplay: a battle for survival

(2014) Ju Huang et al.   NATURE REVIEWS MICROBIOLOGY

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Temsirolimus attenuates tauopathy in vitro and in vivo by targeting tau hyperphosphorylation and autophagic clearance

(2014) Teng Jiang et al.   NEUROPHARMACOLOGY

Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration

(2014) Gert Van Goethem et al.   PEDIATRIC NEUROLOGY

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

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

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

(2013) Shireena A. Yasin et al.   ACTA NEUROPATHOLOGICA

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

(2013) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardiovascular autophagy

(2013) Sergio Lavandero et al.   Autophagy

Role ofEpg5in selective neurodegeneration and Vici syndrome

(2013) Yan G. Zhao et al.   Autophagy

The ULK1 complex

(2013) Pui-Mun Wong et al.   Autophagy

Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons

(2013) Karen Castillo et al.   Autophagy

Brain iron takes off: a new propeller protein links neurodegeneration with autophagy

(2013) Rita Horvath   BRAIN

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

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

(2013) Chiara Vantaggiato et al.   BRAIN

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Differential Regulation of Distinct Vps34 Complexes by AMPK in Nutrient Stress and Autophagy

(2013) Joungmok Kim et al.   CELL

The machinery of macroautophagy

(2013) Yuchen Feng et al.   CELL RESEARCH

Autophagy Enhancer Carbamazepine Alleviates Memory Deficits and Cerebral Amyloid-β Pathology in a Mouse Model of Alzheimer's Disease

(2013) Lixi Li et al.   Current Alzheimer Research

The Role of Lipids in the Control of Autophagy

(2013) Claudia Dall'Armi et al.   CURRENT BIOLOGY

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

(2013) Nunzia Pastore et al.   EMBO Molecular Medicine

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Clinical utility gene card for: Vici Syndrome

(2013) Thomas Cullup et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nilotinib reverses loss of dopamine neurons and improves motor behavior via autophagic degradation of  -synuclein in Parkinson's disease models

(2013) M. L. Hebron et al.   HUMAN MOLECULAR GENETICS

Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration

(2013) Hongyu Zhao et al.   JOURNAL OF CELL BIOLOGY

Nilotinib-induced autophagic changes increase endogenous parkin level and ubiquitination, leading to amyloid clearance

(2013) Irina Lonskaya et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Cardiolipin externalization to the outer mitochondrial membrane acts as an elimination signal for mitophagy in neuronal cells

(2013) Charleen T. Chu et al.   NATURE CELL BIOLOGY

ULK1 induces autophagy by phosphorylating Beclin-1 and activating VPS34 lipid kinase

(2013) Ryan C. Russell et al.   NATURE CELL BIOLOGY

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

The autophagosome: origins unknown, biogenesis complex

(2013) Christopher A. Lamb et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients

(2013) Willem M.A. Verhoeven et al.   PARKINSONISM & RELATED DISORDERS

Mechanism-Based Treatment in Tuberous Sclerosis Complex

(2013) Kristina Jülich et al.   PEDIATRIC NEUROLOGY

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

(2013) Darius Ebrahimi-Fakhari et al.   PEDIATRIC RESEARCH

TFEB-mediated autophagy rescues midbrain dopamine neurons from  -synuclein toxicity

(2013) M. Decressac et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Mukhran Khundadze et al.   PLoS Genetics

Roles of Autophagy in Elimination of Intracellular Bacterial Pathogens

(2013) Eun-Kyeong Jo et al.   Frontiers in Immunology

Protein degradation pathways in Parkinson’s disease: curse or blessing

(2012) Darius Ebrahimi-Fakhari et al.   ACTA NEUROPATHOLOGICA

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

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Stimulation of autophagy by rapamycin protects neurons from remote degeneration after acute focal brain damage

(2012) Maria Teresa Viscomi et al.   Autophagy

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Alpha-synuclein aggregation involves a bafilomycin A1-sensitive autophagy pathway

(2012) Jochen Klucken et al.   Autophagy

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

Autophagy: Emerging roles in lipid homeostasis and metabolic control

(2012) Patricia Christian et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2012) Véronique Schaeffer et al.   BRAIN

Selective autophagy in budding yeast

(2012) Kuninori Suzuki   CELL DEATH AND DIFFERENTIATION

Regulation of lipid stores and metabolism by lipophagy

(2012) K Liu et al.   CELL DEATH AND DIFFERENTIATION

The pathways of mitophagy for quality control and clearance of mitochondria

(2012) G Ashrafi et al.   CELL DEATH AND DIFFERENTIATION

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

(2012) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons

(2012) Sandra Maday et al.   JOURNAL OF CELL BIOLOGY

Atg9 vesicles are an important membrane source during early steps of autophagosome formation

(2012) Hayashi Yamamoto et al.   JOURNAL OF CELL BIOLOGY

Rapamycin Delays Disease Onset and Prevents PrP Plaque Deposition in a Mouse Model of Gerstmann-Straussler-Scheinker Disease

(2012) C. J. Cortes et al.   JOURNAL OF NEUROSCIENCE

Impaired Autophagy in Neurons after Disinhibition of Mammalian Target of Rapamycin and Its Contribution to Epileptogenesis

(2012) J. McMahon et al.   JOURNAL OF NEUROSCIENCE

Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy

(2012) A. Orsi et al.   MOLECULAR BIOLOGY OF THE CELL

Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model

(2012) J W Steele et al.   MOLECULAR PSYCHIATRY

Latrepirdine stimulates autophagy and reduces accumulation of α-synuclein in cells and in mouse brain

(2012) J W Steele et al.   MOLECULAR PSYCHIATRY

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

(2012) Thomas Cullup et al.   NATURE GENETICS

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

Long-term oral lithium treatment attenuates motor disturbance in tauopathy model mice: Implications of autophagy promotion

(2012) Kohei Shimada et al.   NEUROBIOLOGY OF DISEASE

Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia

(2012) Murat Özkale et al.   PEDIATRIC NEUROLOGY

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

(2012) I.-F. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Akt-Mediated Regulation of Autophagy and Tumorigenesis Through Beclin 1 Phosphorylation

(2012) R. C. Wang et al.   SCIENCE

The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis

(2012) A. Roczniak-Ferguson et al.   Science Signaling

PGC-1  Rescues Huntington's Disease Proteotoxicity by Preventing Oxidative Stress and Promoting TFEB Function

(2012) T. Tsunemi et al.   Science Translational Medicine

Chaperone-mediated autophagy: a unique way to enter the lysosome world

(2012) Susmita Kaushik et al.   TRENDS IN CELL BIOLOGY

Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

(2011) Edith Said et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

(2011) Andrea Finocchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

(2011) M.C. Kruer et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

A comprehensive glossary of autophagy-related molecules and processes (2ndedition)

(2011) Daniel J Klionsky et al.   Autophagy

The Beclin 1 network regulates autophagy and apoptosis

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

Principles and Current Strategies for Targeting Autophagy for Cancer Treatment

(2011) R. K. Amaravadi et al.   CLINICAL CANCER RESEARCH

The WD40 Repeat PtdIns(3)P-Binding Protein EPG-6 Regulates Progression of Omegasomes to Autophagosomes

(2011) Qun Lu et al.   DEVELOPMENTAL CELL

A small-molecule enhancer of autophagy decreases levels of Aβ and APP-CTF via Atg5-dependent autophagy pathway

(2011) Yuan Tian et al.   FASEB JOURNAL

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Distinct Roles In Vivo for the Ubiquitin-Proteasome System and the Autophagy-Lysosomal Pathway in the Degradation of  -Synuclein

(2011) D. Ebrahimi-Fakhari et al.   JOURNAL OF NEUROSCIENCE

Distinct Mechanisms of Ferritin Delivery to Lysosomes in Iron-Depleted and Iron-Replete Cells

(2011) T. Asano et al.   MOLECULAR AND CELLULAR BIOLOGY

Role of AMPK-mTOR-Ulk1/2 in the Regulation of Autophagy: Cross Talk, Shortcuts, and Feedbacks

(2011) S. Alers et al.   MOLECULAR AND CELLULAR BIOLOGY

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

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Potential autophagy enhancers attenuate rotenone-induced toxicity in SH-SY5Y

(2011) N. Xiong et al.   NEUROSCIENCE

Inducing Autophagy by Rapamycin Before, but Not After, the Formation of Plaques and Tangles Ameliorates Cognitive Deficits

(2011) Smita Majumder et al.   PLoS One

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Vici syndrome associated with unilateral lung hypoplasia and myopathy

(2010) Mohammed Al-Owain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

(2010) Verity McClelland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms

(2010) Ye Tian et al.   CELL

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Peroxisomes as dynamic organelles: autophagic degradation

(2010) Masahide Oku et al.   FEBS Journal

Regulation of autophagy by phosphatidylinositol 3-phosphate

(2010) Chloe Burman et al.   FEBS LETTERS

Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease

(2010) C. Rose et al.   HUMAN MOLECULAR GENETICS

AMP-activated Protein Kinase Signaling Activation by Resveratrol Modulates Amyloid-β Peptide Metabolism

(2010) Valérie Vingtdeux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Macroautophagy Is Not Directly Involved in the Metabolism of Amyloid Precursor Protein

(2010) Barry Boland et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Atg9-containing compartment that functions in the early steps of autophagosome biogenesis

(2010) Muriel Mari et al.   JOURNAL OF CELL BIOLOGY

Lithium rescues the impaired autophagy process in CbCln3Δex7/8/Δex7/8 cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition

(2010) Jae-Woong Chang et al.   JOURNAL OF NEUROCHEMISTRY

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

Termination of autophagy and reformation of lysosomes regulated by mTOR

(2010) Li Yu et al.   NATURE

Trehalose ameliorates dopaminergic and tau pathology in parkin deleted/tau overexpressing mice through autophagy activation

(2010) Jose A. Rodríguez-Navarro et al.   NEUROBIOLOGY OF DISEASE

The elimination of accumulated and aggregated proteins: A role for aggrephagy in neurodegeneration

(2010) Ai Yamamoto et al.   NEUROBIOLOGY OF DISEASE

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

An Autophagy-Enhancing Drug Promotes Degradation of Mutant  1-Antitrypsin Z and Reduces Hepatic Fibrosis

(2010) T. Hidvegi et al.   SCIENCE

Phosphorylation of ULK1 (hATG1) by AMP-Activated Protein Kinase Connects Energy Sensing to Mitophagy

(2010) D. F. Egan et al.   SCIENCE

WD40 proteins propel cellular networks

(2010) Christian U. Stirnimann et al.   TRENDS IN BIOCHEMICAL SCIENCES

The Beclin 1–VPS34 complex – at the crossroads of autophagy and beyond

(2010) Sarah F. Funderburk et al.   TRENDS IN CELL BIOLOGY

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

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

Insulin-like Growth Factor-I Prevents the Accumulation of Autophagic Vesicles and Cell Death in Purkinje Neurons by Increasing the Rate of Autophagosome-to-lysosome Fusion and Degradation

(2009) Mona Bains et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ULK1·ATG13·FIP200 Complex Mediates mTOR Signaling and Is Essential for Autophagy

(2009) Ian G. Ganley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Nutrient-dependent mTORC1 Association with the ULK1–Atg13–FIP200 Complex Required for Autophagy

(2009) Nao Hosokawa et al.   MOLECULAR BIOLOGY OF THE CELL

ULK-Atg13-FIP200 Complexes Mediate mTOR Signaling to the Autophagy Machinery

(2009) Chang Hwa Jung et al.   MOLECULAR BIOLOGY OF THE CELL

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

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

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

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

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

(2008) T. Pan et al.   BRAIN

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

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

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

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

(2008) Andrea Williams et al.   Nature Chemical Biology

Neuroprotection of rapamycin in lactacystin-induced neurodegeneration via autophagy enhancement

(2008) Tianhong Pan et al.   NEUROBIOLOGY OF DISEASE

Lithium delays progression of amyotrophic lateral sclerosis

(2008) F. Fornai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA