240 related articles for article (PubMed ID: 27770614)
1. Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.
Sato S; Koike M; Funayama M; Ezaki J; Fukuda T; Ueno T; Uchiyama Y; Hattori N
Am J Pathol; 2016 Dec; 186(12):3074-3082. PubMed ID: 27770614
[TBL] [Abstract][Full Text] [Related]
2. Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
Park JS; Sue CM
Curr Protein Pept Sci; 2017; 18(7):725-732. PubMed ID: 26965689
[TBL] [Abstract][Full Text] [Related]
3. Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.
Schultheis PJ; Fleming SM; Clippinger AK; Lewis J; Tsunemi T; Giasson B; Dickson DW; Mazzulli JR; Bardgett ME; Haik KL; Ekhator O; Chava AK; Howard J; Gannon M; Hoffman E; Chen Y; Prasad V; Linn SC; Tamargo RJ; Westbroek W; Sidransky E; Krainc D; Shull GE
Hum Mol Genet; 2013 May; 22(10):2067-82. PubMed ID: 23393156
[TBL] [Abstract][Full Text] [Related]
4. Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Rayaprolu S; Seven YB; Howard J; Duffy C; Altshuler M; Moloney C; Giasson BI; Lewis J
Mol Cell Neurosci; 2018 Oct; 92():17-26. PubMed ID: 29859891
[TBL] [Abstract][Full Text] [Related]
5. The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.
Marcos AL; Corradi GR; Mazzitelli LR; Casali CI; Fernández Tome MDC; Adamo HP; de Tezanos Pinto F
Biochim Biophys Acta Biomembr; 2019 Oct; 1861(10):182993. PubMed ID: 31132336
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park JS; Mehta P; Cooper AA; Veivers D; Heimbach A; Stiller B; Kubisch C; Fung VS; Krainc D; Mackay-Sim A; Sue CM
Hum Mutat; 2011 Aug; 32(8):956-64. PubMed ID: 21542062
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Yang X; Xu Y
Biomed Res Int; 2014; 2014():371256. PubMed ID: 25197640
[TBL] [Abstract][Full Text] [Related]
8. ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
Matsui H; Sato F; Sato S; Koike M; Taruno Y; Saiki S; Funayama M; Ito H; Taniguchi Y; Uemura N; Toyoda A; Sakaki Y; Takeda S; Uchiyama Y; Hattori N; Takahashi R
FEBS Lett; 2013 May; 587(9):1316-25. PubMed ID: 23499937
[TBL] [Abstract][Full Text] [Related]
9. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Bras J; Verloes A; Schneider SA; Mole SE; Guerreiro RJ
Hum Mol Genet; 2012 Jun; 21(12):2646-50. PubMed ID: 22388936
[TBL] [Abstract][Full Text] [Related]
10. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.
Koike M; Nakanishi H; Saftig P; Ezaki J; Isahara K; Ohsawa Y; Schulz-Schaeffer W; Watanabe T; Waguri S; Kametaka S; Shibata M; Yamamoto K; Kominami E; Peters C; von Figura K; Uchiyama Y
J Neurosci; 2000 Sep; 20(18):6898-906. PubMed ID: 10995834
[TBL] [Abstract][Full Text] [Related]
11. Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove.
Dehay B; Martinez-Vicente M; Ramirez A; Perier C; Klein C; Vila M; Bezard E
Autophagy; 2012 Sep; 8(9):1389-91. PubMed ID: 22885599
[TBL] [Abstract][Full Text] [Related]
12. α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.
Kett LR; Stiller B; Bernath MM; Tasset I; Blesa J; Jackson-Lewis V; Chan RB; Zhou B; Di Paolo G; Przedborski S; Cuervo AM; Dauer WT
J Neurosci; 2015 Apr; 35(14):5724-42. PubMed ID: 25855184
[TBL] [Abstract][Full Text] [Related]
13. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Podhajska A; Musso A; Trancikova A; Stafa K; Moser R; Sonnay S; Glauser L; Moore DJ
PLoS One; 2012; 7(6):e39942. PubMed ID: 22768177
[TBL] [Abstract][Full Text] [Related]
14. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
Farias FH; Zeng R; Johnson GS; Wininger FA; Taylor JF; Schnabel RD; McKay SD; Sanders DN; Lohi H; Seppälä EH; Wade CM; Lindblad-Toh K; O'Brien DP; Katz ML
Neurobiol Dis; 2011 Jun; 42(3):468-74. PubMed ID: 21362476
[TBL] [Abstract][Full Text] [Related]
15. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Ramirez A; Heimbach A; Gründemann J; Stiller B; Hampshire D; Cid LP; Goebel I; Mubaidin AF; Wriekat AL; Roeper J; Al-Din A; Hillmer AM; Karsak M; Liss B; Woods CG; Behrens MI; Kubisch C
Nat Genet; 2006 Oct; 38(10):1184-91. PubMed ID: 16964263
[TBL] [Abstract][Full Text] [Related]
16. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
[TBL] [Abstract][Full Text] [Related]
17. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
Grünewald A; Arns B; Seibler P; Rakovic A; Münchau A; Ramirez A; Sue CM; Klein C
Neurobiol Aging; 2012 Aug; 33(8):1843.e1-7. PubMed ID: 22296644
[TBL] [Abstract][Full Text] [Related]
18. Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
Tsunemi T; Krainc D
Hum Mol Genet; 2014 Jun; 23(11):2791-801. PubMed ID: 24334770
[TBL] [Abstract][Full Text] [Related]
19. Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.
Pietrzak A; Badura-Stronka M; Kangas-Kontio T; Felczak P; Kozubski W; Latos-Bielenska A; Wierzba-Bobrowicz T; Florczak-Wyspianska J
Folia Neuropathol; 2019; 57(3):285-294. PubMed ID: 31588715
[TBL] [Abstract][Full Text] [Related]
20. Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to
Chien HF; Rodriguez RD; Bonifati V; Nitrini R; Pasqualucci CA; Gelpi E; Barbosa ER
Neurology; 2021 Oct; 97(16):763-766. PubMed ID: 34475127
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
