Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
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Title
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Authors
Keywords
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Journal
BRAIN
Volume 139, Issue 2, Pages 317-337
Publisher
Oxford University Press (OUP)
Online
2016-01-12
DOI
10.1093/brain/awv371
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Note: Only part of the references are listed.- 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
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- (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
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- (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
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- 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
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- (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
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- (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
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