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Items: 1 to 20 of 29


Neurodegeneration with brain iron accumulation: an overview.

Tonekaboni SH, Mollamohammadi M.

Iran J Child Neurol. 2014 Fall;8(4):1-8. Review.


Neurodegeneration with brain iron accumulation: diagnosis and management.

Hogarth P.

J Mov Disord. 2015 Jan;8(1):1-13. doi: 10.14802/jmd.14034. Review.


ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein.

Tsunemi T, Hamada K, Krainc D.

J Neurosci. 2014 Nov 12;34(46):15281-7. doi: 10.1523/JNEUROSCI.1629-14.2014.


LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.

Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.

Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15573-8. doi: 10.1073/pnas.1405700111.


Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X, Xu Y.

Biomed Res Int. 2014;2014:371256. doi: 10.1155/2014/371256. Review.


Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.

van Veen S, Sørensen DM, Holemans T, Holen HW, Palmgren MG, Vangheluwe P.

Front Mol Neurosci. 2014 May 27;7:48. doi: 10.3389/fnmol.2014.00048. Review.


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 1;23(11):2791-801. doi: 10.1093/hmg/ddt572.


Critical role of calpain in spinal cord degeneration in Parkinson's disease.

Samantaray S, Knaryan VH, Shields DC, Banik NL.

J Neurochem. 2013 Dec;127(6):880-90. doi: 10.1111/jnc.12374.


The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.

Kara E, Hardy J, Houlden H.

Curr Opin Neurol. 2013 Aug;26(4):381-94. doi: 10.1097/WCO.0b013e3283632e83. Review.


Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP.

Curr Neuropharmacol. 2013 Jan;11(1):59-79. doi: 10.2174/157015913804999469.


Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.

Schulte C, Gasser T.

Appl Clin Genet. 2011 Jun 1;4:67-80. doi: 10.2147/TACG.S11639.


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 15;22(10):2067-82. doi: 10.1093/hmg/ddt057.


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. doi: 10.1371/journal.pone.0039942.


Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H.

Neurosci Lett. 2012 Aug 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036.


Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E.

Proc Natl Acad Sci U S A. 2012 Jun 12;109(24):9611-6. doi: 10.1073/pnas.1112368109.


PINK1- and Parkin-mediated mitophagy at a glance.

Jin SM, Youle RJ.

J Cell Sci. 2012 Feb 15;125(Pt 4):795-9. doi: 10.1242/jcs.093849. No abstract available.


ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.

Gusdon AM, Zhu J, Van Houten B, Chu CT.

Neurobiol Dis. 2012 Mar;45(3):962-72. doi: 10.1016/j.nbd.2011.12.015.


PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.

Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ.

Hum Mol Genet. 2012 Apr 15;21(8):1725-43. doi: 10.1093/hmg/ddr606.


Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Radi E, Formichi P, Di Maio G, Battisti C, Federico A.

J Cell Mol Med. 2012 Aug;16(8):1916-23. doi: 10.1111/j.1582-4934.2011.01488.x.


Genetically engineered mouse models of Parkinson's disease.

Crabtree DM, Zhang J.

Brain Res Bull. 2012 May 1;88(1):13-32. doi: 10.1016/j.brainresbull.2011.07.019. Review.

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