Live imaging and analysis to investigate phase separation properties of NEMO during mitophagy
By onProtocol for live imaging and analysis to investigate phase separation properties of NEMO during mitophagy.
Parkinson’s VPS35[D620N] mutation induces LRRK2-mediated lysosomal association of RILPL1 and TMEM55B
By onThis study uncovers a pathway through which dysfunctional lysosomes resulting from the VPS35 mutation recruit and activate LRRK2 on the lysosomal surface, driving assembly of the RILPL1-TMEM55B complex.
Unconventional Initiation of PINK1/Parkin Mitophagy by Optineurin
By onThis work reveals that OPTN mitophagy initiation is mechanistically distinct and highlights the mechanistic plasticity of selective autophagy pathways.
Datasets associated with “Peripheral Neuronal Activation Shapes the Microbiome and Alters Gut Physiology”
By onDataset associated with the publication "Peripheral Neuronal Activation Shapes the Microbiome and Alters Gut Physiology"
Primary confocal microscopy data associated with the manuscript “Parkinson’s VPS35[D620N] mutation induces LRRK2 mediated lysosomal association of RILPL1 and TMEM55B” (doi: 10.1101/2023.06.07.544051)
By onConfocal microscopy images, CellProfiler Excel files of Pearson's coefficients between TMEM55B/RILPL1 or pRab10/RILPL1 in R1441C MEF or VPS35 MEF cells, and Prism files of graphed Pearson's coefficients for each condition, as seen in doi: 10.1101/2023.06.07.544051.
Immunohistochemistry (IHC)
By onImmunohistochemistry for Conserved and cell type-specific transcriptional responses to IFN-γ in the ventral midbrain.
pCAG-OSF-ATG13 (2-197)-K18D
By onPlasmid for expression of human ATG13 HORMA K18D mutant in mammalian cells.
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress
By onRecessive loss-of-function mutations in ATP13A2 (PARK9) are associated with a spectrum of neurodegenerative disorders, including Parkinson’s disease (PD). We recently revealed that the late endo-lysosomal transporter ATP13A2 pumps polyamines like spermine into the cytosol, whereas ATP13A2 dysfunction causes lysosomal polyamine accumulation and rupture. Here, we investigate how ATP13A2 provides protection against mitochondrial toxins such as rotenone, an environmental PD risk factor. Rotenone promoted mitochondrial-generated superoxide (MitoROS), which was exacerbated by ATP13A2 deficiency in SH-SY5Y cells and patient-derived fibroblasts, disturbing mitochondrial functionality and inducing toxicity and cell death. Moreover, ATP13A2 knockdown induced an ATF4-CHOP-dependent stress response following rotenone exposure. MitoROS and ATF4-CHOP were blocked by MitoTEMPO, a mitochondrial antioxidant, suggesting that the impact of ATP13A2 on MitoROS may relate to the antioxidant properties of spermine. Pharmacological inhibition of intracellular polyamine synthesis with α-difluoromethylornithine (DFMO) also increased MitoROS and ATF4 when ATP13A2 was deficient. The polyamine transport activity of ATP13A2 was required for lowering rotenone/DFMO-induced MitoROS, whereas exogenous spermine quenched rotenone-induced MitoROS via ATP13A2. Interestingly, fluorescently labeled spermine uptake in the mitochondria dropped as a consequence of ATP13A2 transport deficiency. Our cellular observations were recapitulated in vivo, in a Caenorhabditis elegans strain deficient in the ATP13A2 ortholog catp-6. These animals exhibited a basal elevated MitoROS level, mitochondrial dysfunction, and enhanced stress response regulated by atfs-1, the C. elegans ortholog of ATF4, causing hypersensitivity to rotenone, which was reversible with MitoTEMPO. Together, our study reveals a conserved cell protective pathway that counters mitochondrial oxidative stress via ATP13A2-mediated lysosomal spermine export.
Maintenance of the recording chamber for non-human primate (Chamber cleaning and dura scraping)
By onThis protocol explains two procedures to maintain the recording chamber in nonhuman primates with craniotomies:(1) chamber cleaning and (2) dura scraping.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease: Bioinformatic Prioritisation and Hit Validation
By onThis protocol describes the Bioinformatic Prioritization of PD GWAS candidates for High Content Screening, and Hit Validation by allele-specific expression (ASE) analysis.
Nucleofection (Amaxa) and electroporation (Biorad) of hPSCs
By onThis collection describes the standard procedure for the delivery of plasmids, mRNA or ribonucleoprotein (RNP) into human pluripotent stem cells (hPSCs) using nucleofection or electroporation.
pCAG-OSF-ATG13 (2-197)-Y115D
By onPlasmid for expression of human ATG13 HORMA Y115D mutant in mammalian cells.
pCAG-OSF-ATG13 (2-197)-Y118D
By onPlasmid: Expresses human ATG13 HORMA Y118D mutant in mammalian cells.
pLenti HsATP10B_WT-T2A-His-flag-TMEM30A
By onTransfer plasmid for lentiviral vector production expressing Hs ATP10B WT and His/Flag tagged Hs TMEM30A.
Pole Test
By onThe protocol describes the pole test for assessing motor coordination and balance in rodents.
Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disorders
By onATP13A2 is a late endolysosomal transporter that exports the polyamines spermine and spermidine from the organellar lumen to the cytosol. Loss-of-function variants in ATP13A2 are causative for Kufor-Rakeb syndrome (KRS, a recessive juvenile-onset parkinsonism with dementia) and have also been identified in early-onset PD (EOPD) and hereditary spastic paraplegia (HSP). Furthermore, candidate pathogenic ATP13A2 variants have been identified in neuronal ceroid lipofuscinosis (NCL; M854R), multiple system atrophy (MSA; Y1020C) and amyotrophic lateral sclerosis (ALS; I411M) suggesting that ATP13A2 may be implicated in a broader range of neurodegenerative disorders. Since the functional consequences of the NCL, MSA, and ALS variants have not yet been examined, we here characterized these ATP13A2 variants in terms of subcellular localization, cellular polyamine uptake, and transport activity. We found that the homozygous NCL-associated M854R variant results in an instable protein with low expression levels, leading to complete loss of ATPase and cellular polyamine uptake activity. The heterozygous MSA-linked Y1020C variant is properly localized and presents only partially decreased ATPase activity without affecting cellular polyamine uptake. The ALS-associated I411M variant is also correctly localized and exhibits a minor effect on cellular polyamine uptake, however, without a significant impact on ATPase activity. Taken together, only the homozygous NCL variant of ATP13A2 causes a complete loss-of-function, validating that ATP13A2 dysfunction is implicated in NCL. The ALS and MSA variants only presented a subtle functional defect, questioning whether these heterozygous variants are pathogenic and whether ATP13A2 dysfunction may cause MSA or ALS.
Image processing to investigate NEMO recruitment and involvement in mitophagy and inflammatory signaling
By onExtensive image processing techniques were used to analyze cellular mechanisms, including deconvolution, machine learning, and manual identification of structures. Creative approaches were employed to ensure reliable and reproducible results.
Activation Induced Marker (AIM) Staining Protocol
By onThis protocol details about activation induced marker staining.