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Items: 1 to 20 of 191

1.

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.

Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT.

PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897.

2.

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.

Sina F, Shojaee S, Elahi E, Paisán-Ruiz C.

Eur J Neurol. 2009 Jan;16(1):101-4. doi: 10.1111/j.1468-1331.2008.02356.x.

PMID:
19087156
3.

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Kapoor S, Shah MH, Singh N, Rather MI, Bhat V, Gopinath S, Bindu PS, Taly AB, Sinha S, Nagappa M, Bharath RD, Mahadevan A, Narayanappa G, Chickabasaviah YT, Kumar A.

PLoS One. 2016 May 19;11(5):e0155605. doi: 10.1371/journal.pone.0155605. eCollection 2016.

4.

Neuroaxonal dystrophy in PLA2G6 knockout mice.

Sumi-Akamaru H, Beck G, Kato S, Mochizuki H.

Neuropathology. 2015 Jun;35(3):289-302. doi: 10.1111/neup.12202. Epub 2015 May 6. Review.

PMID:
25950622
5.

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.

Grazia I, Claudio G, Giovanna C, Maria CD, Roberta Z, Valentina P, Maria MA, Monica G, Radha P, Aldo Q, Grazia A.

J Neurol Sci. 2017 Oct 15;381:209-212. doi: 10.1016/j.jns.2017.08.3260. Epub 2017 Sep 1.

PMID:
28991683
6.

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.

Gui YX, Xu ZP, Wen-Lv, Liu HM, Zhao JJ, Hu XY.

Parkinsonism Relat Disord. 2013 Jan;19(1):21-6. doi: 10.1016/j.parkreldis.2012.07.016. Epub 2012 Nov 20.

PMID:
23182313
7.

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT.

Clin Genet. 2010 Nov;78(5):432-40. doi: 10.1111/j.1399-0004.2010.01417.x.

PMID:
20584031
8.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C.

J Med Genet. 2016 Mar;53(3):180-9. doi: 10.1136/jmedgenet-2015-103338. Epub 2015 Dec 14.

9.

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

Wada H, Yasuda T, Miura I, Watabe K, Sawa C, Kamijuku H, Kojo S, Taniguchi M, Nishino I, Wakana S, Yoshida H, Seino K.

Am J Pathol. 2009 Dec;175(6):2257-63. doi: 10.2353/ajpath.2009.090343. Epub 2009 Nov 5.

10.

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.

Kinghorn KJ, Castillo-Quan JI, Bartolome F, Angelova PR, Li L, Pope S, Cochemé HM, Khan S, Asghari S, Bhatia KP, Hardy J, Abramov AY, Partridge L.

Brain. 2015 Jul;138(Pt 7):1801-16. doi: 10.1093/brain/awv132. Epub 2015 May 22.

11.

Neurodegeneration associated with genetic defects in phospholipase A(2).

Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ.

Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17.

12.

Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations.

Malik I, Turk J, Mancuso DJ, Montier L, Wohltmann M, Wozniak DF, Schmidt RE, Gross RW, Kotzbauer PT.

Am J Pathol. 2008 Feb;172(2):406-16. doi: 10.2353/ajpath.2008.070823. Epub 2008 Jan 17.

13.

Mouse models of human INAD by Pla2g6 deficiency.

Wada H, Kojo S, Seino K.

Histol Histopathol. 2013 Aug;28(8):965-9. doi: 10.14670/HH-28.965. Epub 2013 Mar 7. Review.

PMID:
23467909
14.

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER.

Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e.

PMID:
18443314
15.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C.

Brain Dev. 2017 Feb;39(2):93-100. doi: 10.1016/j.braindev.2016.08.012. Epub 2016 Nov 21. Review.

PMID:
27884548
16.

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PMID:
20938027
17.

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

Wu Y, Jiang Y, Gao Z, Wang J, Yuan Y, Xiong H, Chang X, Bao X, Zhang Y, Xiao J, Wu X.

Eur J Neurol. 2009 Feb;16(2):240-5. doi: 10.1111/j.1468-1331.2008.02397.x. Epub 2008 Dec 9.

PMID:
19138334
18.

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H.

Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21.

19.

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

Yamashita C, Funayama M, Li Y, Yoshino H, Yamada H, Seino Y, Tomiyama H, Hattori N.

J Neural Transm (Vienna). 2017 Apr;124(4):431-435. doi: 10.1007/s00702-016-1658-7. Epub 2016 Dec 9.

PMID:
27942883
20.

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

Kinghorn KJ, Castillo-Quan JI.

Rare Dis. 2016 Jan 25;4(1):e1128616. doi: 10.1080/21675511.2015.1128616. eCollection 2016.

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