Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

By A. Ramírez, A. Heimbach, Jan Gründemann, Barbara Stiller, D. Hampshire, L. P. Cid, I. Goebel, A. Mubaidin, Abdul-Latif Wriekat, Jochen Roeper and 7 more. Nature Genetics, 2006

1,233 citations recorded by the source corpus.

Subfields: Cell Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/f4ac211b8ae2e7fc308928dbf46de6d22963099c

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In Cell Biology

1. P. Boya
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Citations in the corpus

• Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009, background): “A/1019GfsX1021) mutations causing retention and proteosomal degradation of truncated proteins in the endoplasmic reticulum instead of insertion in lysosomal membranes (78).”
• Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, background): “lysosomal ATPase [179], indicating that the lysosomal degradation pathway may play a role in”
• Genetic Animal Models of Parkinson’s Disease (2010, neutral): “In contrast, no animal models have been reported for ATP13A2, which is another rare cause of PD (Ramirez et al., 2006).”
• TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity (2013, background): “In humans, PD has been genetically linked to the rare lysosomal storage diseases, Gaucher disease and Sanfilippo syndrome (20, 21), and polymorphism in the lysosomal genes Lysosomal associated membrabe protein 2 (LAMP2) andAdenosine-3-phosphate 13A2 (ATP13A2) has recently been linked with PD (22, 23”
• Unique properties of mesoprefrontal neurons within a dual mesocorticolimbic dopamine system. (2008, positive): “The established combination of single-cell UV-laser microdissection and quantitative mRNA expression profiling for human DA midbrain neurons from post mortem brains (Ramirez et al., 2006) will allow probing of the human DA midbrain system.”
• Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, neutral): “13 Loss of function mutations in the P-type ATPase, ATP13A2 (also known as PARK9), cause familial Kufor-Rakeb syndrome, characterized by early-onset Parkinsonism (Ramirez et al., 2006).”
• Genetics of Parkinson's disease. (2012, background): “The ATP13A2 protein is normally located in the lysososmal membrane and it has 10 transmembrane domains and an ATPase domain (Ramirez et al. 2006).”
• Mitochondrial Dysfunction in Parkinson's Disease (2011, background): “A loss of function mutation in the lysosomal type 5 Ptype ATPase, ATP13A2, has been shown to have links with a hereditary form of autosomal recessive early onset PD with dementia [119].”
• Extracellular Vesicles: Unique Intercellular Delivery Vehicles. (2017, background): “In juvenile-onset parkinsonism PARK9/ATP13A2, an ATPase ion pump localized to MVBs, is mutated [136].”
• Pathogenic Lysosomal Depletion in Parkinson's Disease (2010, background): “…al., 2004); (3) glucocerebrosidase mutations are also an important risk factor for other Lewy bodies disorders, such as dementia with Lewy bodies (Goker-Alpan et al., 2006); (4) mutations in a lysosomal type 5 P-type ATPase have been associated with hereditary parkinsonism (Ramirez et al., 2006).”
• Inclusion formation and neuronal cell death through neuron-to-neuron transmission of α-synuclein (2009, background): “Recently, in yeast, Caenorhabditis elegans, and rat midbrain dopamine neurons, -synuclein toxicity was shown to be antagonized by ATP13A2/PARK9 (27), whose gene product is localized in the lysosome and suspected in lysosomal function (28).”