2022
ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling
Hancock-Cerutti W, Wu Z, Xu P, Yadavalli N, Leonzino M, Tharkeshwar AK, Ferguson SM, Shadel GS, De Camilli P. ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling. Journal Of Cell Biology 2022, 221: e202106046. PMID: 35657605, PMCID: PMC9170524, DOI: 10.1083/jcb.202106046.Peer-Reviewed Original ResearchConceptsParkinson's diseasePD pathogenesisLeucine-rich repeat kinase 2 (LRRK2) G2019S mutationCGAS-STING pathwayAccumulation of lysosomesDNA-sensing cGAS-STING pathwayImmune activationLipid profileSTING signalingG2019S mutationAutosomal recessive Parkinson's diseaseRecessive Parkinson's diseaseModel human cell linesHuman cell linesCell linesPathogenesisLate endosomes/lysosomesDiseaseVPS13CEndosomes/lysosomesCurrent studyTransfer proteinActivationCellsPathway
2020
PLD3 is a neuronal lysosomal phospholipase D associated with β‐amyloid plaques and cognitive function in Alzheimer’s disease
Nackenoff A, Hohman T, Neuner S, Akers C, Weitzel N, Shostak A, Ferguson S, Bennett D, Schneider J, Jefferson A, Kaczorowski C, Schrag M. PLD3 is a neuronal lysosomal phospholipase D associated with β‐amyloid plaques and cognitive function in Alzheimer’s disease. Alzheimer's & Dementia 2020, 16 DOI: 10.1002/alz.043301.Peer-Reviewed Original ResearchSporadic Alzheimer's diseaseΒ-amyloid plaquesAlzheimer's diseaseCerebral β-amyloidosisΒ-amyloid pathologyPhospholipase D3Normal human brainPre-frontal cortexAD-affected brainsFear conditioning taskReligious Orders StudyDystrophic neuritesAD brainΒ-amyloidosisMouse modelCognitive declineMouse brainPhospholipase D isoformsCognitive functionPathology severityMouse strainsDiseaseBrainRush MemoryMRNA levels