Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration

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

Disruption of Protein Quality Control in Parkinson's Disease

(2013) C. Cook et al.   Cold Spring Harbor Perspectives in Medicine

The Ubiquitin-Proteasome System and the Autophagic-Lysosomal System in Alzheimer Disease

(2013) Y. Ihara et al.   Cold Spring Harbor Perspectives in Medicine

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

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

Atg5 and Ambra1 differentially modulate neurogenesis in neural stem cells

(2012) Patricia Vázquez et al.   Autophagy

Alpha-synuclein’s degradation in vivo

(2012) Darius Ebrahimi-Fakhari et al.   Autophagy

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

Early-onset Lafora body disease

(2012) Julie Turnbull et al.   BRAIN

The pathways of mitophagy for quality control and clearance of mitochondria

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

Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii

(2012) Matthew S. Gentry et al.   FEBS Journal

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

(2012) M. Paulina Ordonez et al.   HUMAN MOLECULAR GENETICS

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

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

Role of Cathepsin D in U18666A-induced Neuronal Cell Death

(2012) Asha Amritraj et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alexander Disease

(2012) A. Messing et al.   JOURNAL OF NEUROSCIENCE

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

The Role of Atg Proteins in Autophagosome Formation

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

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

Phosphate Incorporation during Glycogen Synthesis and Lafora Disease

(2011) Vincent S. Tagliabracci et al.   Cell Metabolism

Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

(2011) Jean E Vance et al.   CURRENT OPINION IN LIPIDOLOGY

Dysfunctions in endosomal–lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease

(2011) Rajat Puri et al.   HUMAN MOLECULAR GENETICS

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

(2011) Olga Criado et al.   HUMAN MOLECULAR GENETICS

Malin and laforin are essential components of a protein complex that protects cells from thermal stress

(2011) S. Sengupta et al.   JOURNAL OF CELL SCIENCE

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

Control of autophagy as a therapy for neurodegenerative disease

(2011) Harry Harris et al.   Nature Reviews Neurology

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

(2011) M. Prust et al.   NEUROLOGY

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Lysosomal Lipid Storage Diseases

(2011) H. Schulze et al.   Cold Spring Harbor Perspectives in Biology

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

Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin

(2010) Sudheendra N.R. Rao et al.   HUMAN MOLECULAR GENETICS

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

(2010) Carmen Aguado et al.   HUMAN MOLECULAR GENETICS

Oligomers of Mutant Glial Fibrillary Acidic Protein (GFAP) Inhibit the Proteasome System in Alexander Disease Astrocytes, and the Small Heat Shock Protein αB-Crystallin Reverses the Inhibition

(2010) Guomei Tang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

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

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

Suppression of GFAP toxicity by αB-crystallin in mouse models of Alexander disease

(2009) Tracy L. Hagemann et al.   HUMAN MOLECULAR GENETICS

Co-chaperone CHIP Stabilizes Aggregate-prone Malin, a Ubiquitin Ligase Mutated in Lafora Disease

(2009) Sudheendra N. R. Rao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysfunctions of neuronal and glial intermediate filaments in disease

(2009) Ronald K.H. Liem et al.   JOURNAL OF CLINICAL INVESTIGATION

Association of autophagy with cholesterol-accumulated compartments in Niemann-Pick disease type C cells

(2009) Seiya Ishibashi et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

(2009) Santiago Vernia et al.   PLoS One

Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways

(2008) G. Tang et al.   HUMAN MOLECULAR GENETICS

The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system

(2008) Punitee Garyali et al.   HUMAN MOLECULAR GENETICS

Glial Fibrillary Acidic Protein Filaments Can Tolerate the Incorporation of Assembly-compromised GFAP-δ, but with Consequences for Filament Organization and αB-Crystallin Association

(2008) Ming-Der Perng et al.   MOLECULAR BIOLOGY OF THE CELL

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes

(2008) Luca Jahreiss et al.   TRAFFIC