Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.
Explore this paper's citation graph
Summary
Autophagy is a central process in the pathogenesis of complicated forms of hereditary spastic paraparesis with thin corpus callosum and results indicate that autophagy defects with autophagosome accumulation can be observed also in neuronal cells upon spastizin silencing.
- Type
- article
- Published
- 2013-10-01
- Cited by
- 88
- References
- 75
- Access
- Open access
- OpenAlex
- https://openalex.org/W1975962457
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:14308527
Keywords
Autophagy, Cell biology, Biology, Cytokinesis, Endoplasmic reticulum
References
- The Consensus Coding Sequences of Human Breast and Colorectal Cancers
- Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
- Molecular machinery of macroautophagy and its deregulation in diseases.
- Autophagy in mammalian cells.
- A novel CLN8 mutation in late‐infantile‐onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function
- Genetics of Hereditary Spastic Paraplegias
- LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing
- Autophagic substrate clearance requires activity of the syntaxin-5 SNARE complex
- Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1- phosphatidylinositol 3-kinase complex
- Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
- A phosphatidylinositol 3-kinase class III sub-complex containing VPS15, VPS34, Beclin 1, UVRAG and BIF-1 regulates cytokinesis and degradative endocytic traffic.
- Autophagy modulation as a potential therapeutic target for diverse diseases
- Cytoprotective roles for autophagy
- Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
- A Tumor-Associated Mutation of FYVE-CENT Prevents Its Interaction with Beclin 1 and Interferes with Cytokinesis
- Altered macroautophagy in the spinal cord of SOD1 mutant mice
- Neuronal macroautophagy: from development to degeneration.
- Hereditary spastic paraplegias: membrane traffic and the motor pathway
- Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.
- Beclin1: A role in membrane dynamics and beyond
Cited by
- Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
- Modelling Hereditary Spastic Paraplegias using Human Pluripotent Stem Cells
- In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
- Compromised autophagy and neurodegenerative diseases
- Autophagy and human diseases
- Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.
- Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
- Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
- Autophagy and neurodegeneration.
- Crosstalk Between Macroautophagy and Chaperone-Mediated Autophagy: Implications for the Treatment of Neurological Diseases
- Souffle/Spastizin Controls Secretory Vesicle Maturation during Zebrafish Oogenesis
- TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
- Autophagy and its normal and pathogenic states in the brain.
- Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia
- Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
- Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.
- Souffle/Spastizin regulates secretory granule maturation by sorting lysosomal cargo from immature secretory granule during zebrafish oogenesis
- Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
- TBC1D20 mediates autophagy as a key regulator of autophagosome maturation
- Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
Related papers
- Bidirectional regulation between TORC1 and autophagy in Saccharomyces cerevisiae
- Beclin 1-independent autophagy induced by a Bcl-XL/Bcl-2 targeting compound, Z18
- Structure of the Novel C-terminal Domain of Vacuolar Protein Sorting 30/Autophagy-related Protein 6 and Its Specific Role in Autophagy
- Tap42-associated protein phosphatase type 2A negatively regulates induction of autophagy
- Direct induction of autophagy by Atg1 inhibits cell growth and induces apoptotic cell death.
- Protein transport to the yeast vacuole.
- Non-canonical autophagy: An exception or an underestimated form of autophagy?
- Dual roles of autophagy in the survival of Caenorhabditis elegans during starvation.
- Autophagy in filamentous fungi.
- Morphometric analysis of autophagy-related structures in Saccharomyces cerevisiae