PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 33091395-0 2021 Novel Mutations in ATP13A2 Associated with Mixed Neurological Presentations and Iron Toxicity due to Nonsense-Mediated Decay. Iron 80-84 ATPase cation transporting 13A2 Homo sapiens 19-26 20817231-3 2010 The present review will describe the parkinsonian phenotypes emerging from the new Mendelian genes which have been linked to PD (such as PARK9 and PARK14), the associated dystonia-parkinsonism disorders (such as the syndromes of neurodegeneration with brain iron accumulation) and the emerging data on heterozygous variants of genes which could influence the risk to develop PD and the PD phenotypes (like PD associated with glucose cerebrosidase mutations). Iron 258-262 ATPase cation transporting 13A2 Homo sapiens 137-142 20740487-0 2010 Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Iron 74-78 ATPase cation transporting 13A2 Homo sapiens 13-20 20740487-0 2010 Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Iron 74-78 ATPase cation transporting 13A2 Homo sapiens 32-37 20310007-0 2010 ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Iron 61-65 ATPase cation transporting 13A2 Homo sapiens 0-7 20310007-0 2010 ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Iron 61-65 ATPase cation transporting 13A2 Homo sapiens 19-24 33091395-11 2021 Iron accumulation due to the absence of ATP13A2 protein in the patient"s fibroblasts and hypointense areas on T2-weighted images may expand the spectrum of KRS to consider it as neurodegeneration with brain iron accumulation disorders. Iron 0-4 ATPase cation transporting 13A2 Homo sapiens 40-47 26818499-0 2016 Regulation of ATP13A2 via PHD2-HIF1alpha Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson"s Disease. Iron 76-80 ATPase cation transporting 13A2 Homo sapiens 14-21 32032734-0 2020 Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function. Iron 13-17 ATPase cation transporting 13A2 Homo sapiens 50-57 32032734-2 2020 Patients with KRS show increased iron deposition in the basal ganglia, suggesting iron toxicity-induced neurodegeneration as a potential pathogenesis associated with the ATP13A2 mutation. Iron 33-37 ATPase cation transporting 13A2 Homo sapiens 170-177 32032734-2 2020 Patients with KRS show increased iron deposition in the basal ganglia, suggesting iron toxicity-induced neurodegeneration as a potential pathogenesis associated with the ATP13A2 mutation. Iron 82-86 ATPase cation transporting 13A2 Homo sapiens 170-177 32032734-3 2020 Previously we demonstrated that functional losses of ATP13A2 disrupt the lysosome"s ability to store excess iron, leading to reduce survival of dopaminergic neuronal cells. Iron 108-112 ATPase cation transporting 13A2 Homo sapiens 53-60 29169913-8 2018 We then describe the ATP13A2-involvement in iron homeostasis and its potential linkage with new pathologies like cancer, and finally, we consider the putative role of ATP13A2 in lipid processing and degradation, opening the interesting possibility of a broader role of this protein providing protection against a variety of disease-associated changes affecting cellular homeostasis. Iron 44-48 ATPase cation transporting 13A2 Homo sapiens 21-28 26818499-7 2016 Knockdown of ATP13A2 expression within human DAergic cells was found to abrogate restoration of cellular iron homeostasis and neuronal cell viability elicited by inhibition of PHD2 under conditions of mitochondrial stress, likely via effects on lysosomal iron storage. Iron 105-109 ATPase cation transporting 13A2 Homo sapiens 13-20 26818499-7 2016 Knockdown of ATP13A2 expression within human DAergic cells was found to abrogate restoration of cellular iron homeostasis and neuronal cell viability elicited by inhibition of PHD2 under conditions of mitochondrial stress, likely via effects on lysosomal iron storage. Iron 255-259 ATPase cation transporting 13A2 Homo sapiens 13-20 26818499-8 2016 These data suggest that regulation of ATP13A2 by the PHD2-HIF1alpha signaling pathway affects cellular iron homeostasis and DAergic neuronal survival. Iron 103-107 ATPase cation transporting 13A2 Homo sapiens 38-45 26818499-12 2016 Knockdown of ATP13A2, a gene linked to a rare juvenile form of Parkinson"s disease and recently identified as a novel HIF1alpha target, was found to abrogate maintenance of cellular iron homeostasis and neuronal viability elicited by PHD2 inhibition in vivo and in cultured dopaminergic cells under conditions of mitochondrial stress. Iron 182-186 ATPase cation transporting 13A2 Homo sapiens 13-20 26818499-13 2016 Mechanistically, this was due to ATP13A2"s role in maintaining lysosomal iron stores. Iron 73-77 ATPase cation transporting 13A2 Homo sapiens 33-40 22743658-0 2012 Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Iron 58-62 ATPase cation transporting 13A2 Homo sapiens 12-19 24361204-3 2014 Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Iron 73-77 ATPase cation transporting 13A2 Homo sapiens 13-20 27073711-6 2016 We further demonstrate that PA and PI(3,5)P2 are also required for the ATP13A2-mediated protection against the toxic metals Mn(2+), Zn(2+), and Fe(3+), suggesting a general lipid-dependent activation mechanism of ATP13A2 in various PD-related stress conditions. Iron 144-146 ATPase cation transporting 13A2 Homo sapiens 71-78 25912790-0 2015 The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity. Iron 71-75 ATPase cation transporting 13A2 Homo sapiens 42-49 25912790-4 2015 Loss-of-function mutations in the ATP13A2 gene (PARK9, OMIM 610513) underlay a form of Parkinson"s disease (PD) known as the Kufor-Rakeb syndrome (KRS), which belongs to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). Iron 225-229 ATPase cation transporting 13A2 Homo sapiens 34-41 25912790-4 2015 Loss-of-function mutations in the ATP13A2 gene (PARK9, OMIM 610513) underlay a form of Parkinson"s disease (PD) known as the Kufor-Rakeb syndrome (KRS), which belongs to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). Iron 225-229 ATPase cation transporting 13A2 Homo sapiens 48-53 25912790-6 2015 Moreover, the iron content in ATP13A2 cells was lower than control cells stably expressing an inactive mutant of ATP13A2. Iron 14-18 ATPase cation transporting 13A2 Homo sapiens 30-37 25912790-6 2015 Moreover, the iron content in ATP13A2 cells was lower than control cells stably expressing an inactive mutant of ATP13A2. Iron 14-18 ATPase cation transporting 13A2 Homo sapiens 113-120 25912790-8 2015 ATP13A2 cells exhibited a reduced iron-induced lysosome membrane permeabilization (LMP). Iron 34-38 ATPase cation transporting 13A2 Homo sapiens 0-7 25912790-9 2015 These results suggest that ATP13A2 overexpression improves the lysosome membrane integrity and protects against the iron-induced cell damage. Iron 116-120 ATPase cation transporting 13A2 Homo sapiens 27-34 22743658-3 2012 More recently, evidence of iron deposition in the caudate and putamen have been reported in patients with ATP13A2 mutations. Iron 27-31 ATPase cation transporting 13A2 Homo sapiens 106-113