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.

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.

Article

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.

Article

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.

Article

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.

Article

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.

Article

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.

Article

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.

Article

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.

Tool

pLenti HsATP10B_WT-T2A-His-flag-TMEM30A

Transfer plasmid for lentiviral vector production expressing Hs ATP10B WT and His/Flag tagged Hs TMEM30A.

Article

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.

Article

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.