An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway
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Summary
It is shown that an inherited mutation in the WHamM gene causes severe defects in autophagy and that the WHAMM protein normally binds to PI(3)P and nucleates actin to promote LC3 incorporation during autophagosome biogenesis.
- Type
- article
- Published
- 2017-09-15
- Cited by
- 22
- References
- 51
- Access
- Open access
- OpenAlex
- https://openalex.org/W2738387358
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:36418070
Keywords
Biology, Cell biology, Biogenesis, Cytoskeleton, Mutation
References
- Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks
- Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
- Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
- Actin nucleation by WH2 domains at the autophagosome
- CapZ regulates autophagosomal membrane shaping by promoting actin assembly inside the isolation membrane
- WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
- WHAMM Directs the Arp2/3 Complex to the ER for Autophagosome Biogenesis Through an Actin Comet Tail Mechanism
- Translocation of interleukin-1β into a vesicle intermediate in autophagy-mediated secretion
- WASH inhibits autophagy through suppression of Beclin 1 ubiquitination
- Eaten alive: a history of macroautophagy
- Antibacterial autophagy occurs at PI(3)P-enriched domains of the endoplasmic reticulum and requires Rab1 GTPase
- LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing
- JMY is involved in anterograde vesicle trafficking from the trans-Golgi network.
- WASH, WHAMM and JMY: regulation of Arp2/3 complex and beyond.
- A Nucleator Arms Race: Cellular Control of Actin Assembly
- Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy
- p53-cofactor JMY is a Multifunctional Actin Nucleation Factor
- The actin cytoskeleton participates in the early events of autophagosome formation upon starvation induced autophagy
- Actin cytoskeletal defects in immunodeficiency
- RhoD is a Golgi component with a role in anterograde protein transport from the ER to the plasma membrane.
Cited by
- Actin cross-linking toxin is a universal inhibitor of tandem-organized and oligomeric G-actin binding proteins
- A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
- Impaired proteostasis in rare neurological diseases.
- Phosphatidylinositol-3-phosphate-mediated actin domain formation linked to DNA synthesis upon insulin treatment in rat hepatoma-derived H4IIEC3 cells.
- LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation
- Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling
- Human myotubularin-related protein 9 regulates ER-to-golgi trafficking and modulates WNT3A secretion.
- WHIMP links the actin nucleation machinery to Src-family kinase signaling during protrusion and motility
- The actin nucleation factors JMY and WHAMM enable a rapid p53-dependent pathway of apoptosis
- Mechanobiology of Autophagy: The Unexplored Side of Cancer
- The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis
- Multiple roles for actin in secretory and endocytic pathways
- Targeted disruption of GAK stagnates autophagic flux by disturbing lysosomal dynamics
- Parallel kinase pathways stimulate actin polymerization at depolarized mitochondria
- WASP Family Proteins: Molecular Mechanisms and Implications in Human Disease
- Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
- Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors
- The multiple links between actin and mitochondria
- ARP2/3 complex associates with peroxisomes to participate in pexophagy in plants
- Two non-familial cases of Galloway-Mowat syndrome carrying the homozygous mutations of WDR73 and TP53RK
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