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Autophagy, ISSN 1554-8627, 03/2019, Volume 15, Issue 3, pp. 527 - 542
50% of Caucasians carry a Thr300Ala variant (T300A) in the protein encoded by the macroautophagy/autophagy gene ATG16L1. Here, we show that the T300A variant... 
EPG5 | multivesicular bodies | RAB27B | ATG14 | ATG7
Journal Article
Autophagy, ISSN 1554-8627, 08/2019, Volume 15, Issue 8, pp. 1438 - 1454
The EPG5 protein is a RAB7A effector involved in fusion specificity between autophagosomes and late endosomes or lysosomes during macroautophagy/autophagy.... 
autophagy | zebrafish mutant line | Vici syndrome | CRISPR-Cas9 | epg5 | Autophagic flux | CELLS | MICE DEFICIENT | BREAST | CELL BIOLOGY | SYNDROME GENE EPG5 | IN-VIVO | EXPRESSION | MOLECULAR-MECHANISMS
Journal Article
Autophagy, ISSN 1554-8627, 03/2019, Volume 15, Issue 3, pp. 527 - 542
50% of Caucasians carry a Thr300Ala variant (T300A) in the protein encoded by the macroautophagy/autophagy gene ATG16L1. Here, we show that the T300A variant... 
EPG5 | multivesicular bodies | RAB27B | ATG14 | ATG7
Journal Article
Current Biology, ISSN 0960-9822, 12/2017, Volume 27, Issue 23, pp. 3626 - 3642.e6
The terminal stages of neuronal degeneration and death in neurodegenerative diseases remain elusive. Autophagy is an essential catabolic process frequently... 
autophagy | nucleophagy | neurodegeneration | Agricultural and Biological Sciences(all) | EPG5 | Atrophin-1 | Biochemistry, Genetics and Molecular Biology(all) | polyglutamine
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2019, Volume 50, Issue 4, pp. 257 - 261
Abstract Congenital disorders of autophagy are multisystem disorders with significant neurological involvement. Ectopic p-granules protein 5 ( EPG5... 
Short Communication | autophagy | neurodevelopment | neurodegeneration | CONGENITAL DISORDERS | EPG5 | PEDIATRICS | Vici syndrome | gene expression | CLINICAL NEUROLOGY
Journal Article
AUTOPHAGY, ISSN 1554-8627, 03/2019, Volume 15, Issue 3, pp. 527 - 542
50% of Caucasians carry a Thr300Ala variant (T300A) in the protein encoded by the macroautophagy/autophagy gene ATG16L1. Here, we show that the T300A variant... 
CLEARANCE | EXOCYTOSIS | PROTECTION | RAB27B | ATG14 | DEFICIENCY | CELL BIOLOGY | ORGANIZATION | multivesicular bodies | GENE | DISEASE | EPG5 | FUSIFORM VESICLES | RAB PROTEINS | ATG7
Journal Article
JOURNAL OF CELL SCIENCE, ISSN 0021-9533, 10/2019, Volume 132, Issue 19, p. jcs234195
Vici syndrome is a severe and progressive multisystem disease caused by mutations in the EPG5 gene. In patient tissues and animal models, loss of EPG5 function... 
C. elegans | FUSION | SPECIFICITY | epg-5 | Lysosome | IDENTIFICATION | Autophagy | SNARE | CELL BIOLOGY | RAB3 SUBFAMILY | ENDOSOMES | RBG-1 | EPG5 | RAB3GAP1 | KEY | RAB-7 | HOPS COMPLEX
Journal Article
Journal Article
Autophagy, ISSN 1554-8627, 04/2018, Volume 14, Issue 4, pp. 722 - 723
Macroautophagy/autophagy influences onset and progression of several human neurodegenerative diseases, because of its critical role as a regulator of neuronal... 
autophagy | cell death | nucleophagy | Atrophin | neurodegeneration | EPG5 | polyglutamine | CELL BIOLOGY | Autophagy - physiology | Neurons - metabolism | Neurodegenerative Diseases - metabolism | Cell Death - physiology | Humans
Journal Article
THERANOSTICS, ISSN 1838-7640, 2019, Volume 9, Issue 18, pp. 5134 - 5148
Rationale: Lung cancer is the leading cause of cancer death worldwide, and treatment options are limited to mainly cytotoxic agents. Here we reveal a novel... 
MEDICINE, RESEARCH & EXPERIMENTAL | autophagy | PROTEIN | FUSION | NSCLC | P62/SQSTM1 | MATURATION | POOR-PROGNOSIS | miR-150 | EPG5 | tumorigenesis | INHIBITORS | EXPRESSION | CARCINOMA | MICRORNA
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue Part 3, pp. 765 - 781
Journal Article
Autophagy, ISSN 1554-8627, 11/2018, Volume 14, Issue 11, pp. 1959 - 1975
The macroautophagy/autophagy-inducing disaccharide, trehalose, has been proposed to be a promising therapeutic agent against neurodegenerative and... 
glucose transport | ectopic P-granules autophagy protein | solute carrier 2A | transcription factor EB | fibroblast growth factor | Beclin 1 | PPAR-ALPHA | LIPID-METABOLISM | PGC-1-ALPHA | HEPATIC FGF21 EXPRESSION | AUTOPHAGY | CELL BIOLOGY | DIET | AMPK | DEGRADATION | EPG5 | ENERGY-METABOLISM
Journal Article
Journal of Molecular Neuroscience, ISSN 0895-8696, 12/2016, Volume 60, Issue 4, pp. 436 - 444
Non-parametric methods such as Wilcoxon test have the advantages of no assumptions for the underlying survival distributions. Alzheimer’s disease (AD) is a... 
Neurochemistry | Wilcoxon test | Neurology | Age at onset | Survival analysis | Neurosciences | Biomedicine | Alzheimer disease | Proteomics | EPG5 | Cell Biology | Non-parametric methods
Journal Article
Pakistan Paediatric Journal, ISSN 0304-4904, 09/2018, Volume 42, Issue 3, pp. 217 - 219
Journal Article
Current Biology, ISSN 0960-9822, 12/2017, Volume 27, Issue 23, pp. 3626 - 3642.e6
The terminal stages of neuronal degeneration and death in neurodegenerative diseases remain elusive. Autophagy is an essential catabolic process frequently... 
neurodegeneration | EPG5 | Atrophin-1 | autophagy | nucleophagy | polyglutamine | Journal Article | NONCANONICAL AUTOPHAGY | REPEAT EXPANSION | DRPLA | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | VICI SYNDROME | DEGRADATION | POLYGLUTAMINE ATROPHIN | PALLIDOLUYSIAN ATROPHY | TRANSGENIC MICE | NUCLEOCYTOPLASMIC TRANSPORT | CELL BIOLOGY | Nervous system diseases | Analysis
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 3552 - 11
Journal Article
Autophagy, ISSN 1554-8627, 08/2013, Volume 9, Issue 8, pp. 1258 - 1262
Journal Article
Journal Article
Journal Article