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Catalog
ASAP is committed to accelerating the pace of discovery and informing a path to a cure for Parkinson’s disease through collaboration, research-enabling resources, and data sharing. We’ve created this catalog to showcase the research outputs and tools developed by ASAP-funded programs.
Article
Is Gauchian genotyping of GBA1 variants reliable?
Preprint: The authors evaluated Gauchian in 90 Sanger-sequenced patients with GD and five GBA1 heterozygotes using the software tool Gauchian to identify GBA1 variants from whole genome sequencing. While Gauchian genotyped most patients correctly, this limits Gauchian’s utility in variant screening and precluding its use in diagnostics.
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The lysosome as a master regulator of iron metabolism
Review: This review focuses on the role that the lysosome plays in maintaining iron homeostasis and how lysosomal iron dysregulation contributes to disease.
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Lysosomal dysfunction in neurodegeneration: emerging concepts and methods
Review: This review summarizes key technological advances that have led to a better understanding of the contribution of the lysosome to neurodegeneration and highlights key questions to be addressed moving forward.
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Rodent models based on endolysosomal genes involved in Parkinson’s disease
Review: This review summarizes parkinsonian phenotypes in rodent models targeting genes that have a role in endolysosomal pathways and future steps to better understand the contribution of endolysosomal dysfunction to PD.
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Inter-organellar communication in Parkinson’s and Alzheimer’s disease: looking beyond endoplasmic reticulum-mitochondria contact sites
Review: Here, authors summarize the contributions of membrane contact sites in dysregulation of inter-organellar communication, taking findings from Parkinson’s and Alzheimer’s as major examples.
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Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
Review: To better understand the disease pathogenesis of Gaucher Disease, the authors reviewed the neuropathological features associated with glucocerebrosidase deficiency, examining autopsy studies of rare patients with GD.
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Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
Review: The development of the Lyso-IP approach and similar methods now allow for lysosomal purification within ten minutes. This review discusses the impact of this new methodology in uncovering the role of lysosomes in neurodegenerative conditions.
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Disruption of lysosomal proteolysis in astrocytes facilitates midbrain proteostasis failure in an early-onset PD model
Preprint: Accumulation of advanced glycation end products (AGEs) on biopolymers accompany cellular aging and drives poorly understood disease processes. Here, authors studied how AGEs contribute to development of early on-set Parkinson’s disease (PD) caused by loss-of-function of DJ1, a protein deglycase.
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Article
ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization
Published: ATP13A2 loss-of-function mutations cause lysosomal deficiency and are linked to Parkinson’s disease and alpha-synuclein pathology. The authors found that loss of ATP13A2 disrupts lysosomal membrane integrity and causes alpha-synuclein multimerization. Further, they showed that increased levels of ATP13A2 had a protective effect on alpha-synuclein aggregation.
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ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress
Published: Loss-of-function of ATP13A2, an endo-lysosomal transporter that pumps polyamines into the cytosol, is associated with PD. ATP13A2 dysfunction causes polyamine accumulation within the lysosome and lysosomal rupture. The authors found a conserved cellular protective pathway involving ATP13A2-mediated lysosomal spermine export to provide protection against mitochondrial toxins.
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P5B-ATPases in the mammalian polyamine transport system and their role in disease
Review: This review brings together the current knowledge of the cellular function of the mammalian polyamine transport system, focusing on the role of P5B-ATPases ATP13A2-5.
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Novel green fluorescent polyamines to analyze ATP13A2 and ATP13A3 activity in the mammalian polyamine transport system
Preprint: Cells acquire the polyamines putrescine (PUT), spermidine (SPD), and spermine (SPM) via the complementary action of polyamine uptake and synthesis pathways. The endosomal P5B-type ATPases ATP13A2 and ATP13A3 emerge as major determinants of mammalian polyamine uptake. Our biochemical evidence shows that fluorescently labeled polyamines are genuine substrates of ATP13A2.
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The lipid flippase ATP10B enables cellular lipid uptake under stress conditions
Published: The authors’ data shows that the endo-/lysosomal lipid flippase ATP10B contributes to cellular PC uptake under specific cell stress conditions. View original preprint.
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Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disorders
Preprint: Loss-of-function variants in ATP13A2 are causative for Kufor-Rakeb syndrome (KRS, a recessive juvenile-onset parkinsonism with dementia) and also identified in early-onset PD (EOPD) and hereditary spastic paraplegia (HSP). The ALS and MSA variants presented a subtle functional defect, questioning whether these heterozygous variants are pathogenic and ATP13A2 dysfunction may cause MSA or ALS.
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