Output 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.
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ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress
Recessive 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…
Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disorders
ATP13A2 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…
P5B-ATPases in the mammalian polyamine transport system and their role in disease
Polyamines (PAs) are physiologically relevant molecules that are ubiquitous in all organisms. The vitality of PAs to the healthy functioning of a cell is due to their polycationic nature causing them to interact with a vast plethora of cellular…
The lipid flippase ATP10B enables cellular lipid uptake under stress conditions
ATP10B mutations are linked to Parkinson's and Lewy body disease. ATP10B acts as a lipid transporter in late endo-/lysosomes, enhancing phosphatidylcholine uptake in cells under stress conditions like rotenone treatment.
CRISPR/Cas9-Based Functional Genomics in Human Induced Pluripotent Stem Cell–Derived Models: Can “the Stars Align” for Neurodegenerative Diseases?
The article discusses the use of CRISPR/Cas9 in studying human diseases using stem cell models, highlighting its potential for advancing functional genomics research.
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic…
Disruption of lysosomal proteolysis in astrocytes facilitates midbrain proteostasis failure in an early-onset PD model
Accumulation of advanced glycation end products (AGEs) on biopolymers accompany cellular aging and drives poorly understood disease processes. Here, we studied how AGEs contribute to development of early on-set Parkinson’s Disease (PD) caused by…
Inter-organellar Communication in Parkinson’s and Alzheimer’s Disease: Looking Beyond Endoplasmic Reticulum-Mitochondria Contact Sites
Neurodegenerative diseases (NDs) are generally considered proteinopathies but whereas this may initiate disease in familial cases, onset in sporadic diseases may originate from a gradually disrupted organellar homeostasis. Herein, endolysosomal…
Rodent models based on endolysosomal genes involved in PArkinson’s disease
Genes linked to endolysosomal function are connected to Parkinson's disease, suggesting a role in its development. Rodent models targeting these genes like LRRK2 and GBA1 show parkinsonian features, aiding in understanding and treating the disease.
ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization
ATP13A2 loss-of-function mutations 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.
Novel green fluorescent polyamines to analyze ATP13A2 and ATP13A3 activity in the mammalian polyamine transport system
Biochemical evidence presented here shows that fluorescently labeled polyamines are genuine substrates of ATP13A2.
Polyamines in Parkinson’s Disease: Balancing Between Neurotoxicity and Neuroprotection
The polyamines putrescine, spermidine, and spermine are abundant polycations of vital importance in mammalian cells. Their cellular levels are tightly regulated by degradation and synthesis, as well as by uptake and export. Here, we discuss the…
Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction…
Is Gauchian genotyping of GBA1 variants reliable?
Biallelic GBA1 mutations cause Gaucher disease & increase Parkinson's risk. Gauchian software aids in detecting GBA1 variants but may miss rare mutations and recombination events, limiting its diagnostic utility in GD and Parkinsonism studies.
Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-Function ATP13A2 Variant and Response to Treatment
ATP13A2 mutations cause Kufor-Rakeb syndrome, leading to parkinsonism with various neurological symptoms. Quetiapine showed promise in treating associated psychosis with good tolerance, suggesting its potential for managing such cases effectively.
