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Items: 1 to 20 of 129

1.

PLA2G6 accumulates in Lewy bodies in PARK14 and idiopathic Parkinson's disease.

Miki Y, Tanji K, Mori F, Kakita A, Takahashi H, Wakabayashi K.

Neurosci Lett. 2017 Apr 3;645:40-45. doi: 10.1016/j.neulet.2017.02.027. Epub 2017 Feb 14.

PMID:
28213071
2.

Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.

Gao L, Li L, Ye J, Zhu X, Shen N, Zhang X, Wang D, Gao Y, Lin H, Wang Y, Liu Y.

Seizure. 2016 Oct;41:81-5. doi: 10.1016/j.seizure.2016.07.013. Epub 2016 Jul 28.

3.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Bohlega SA, Al-Mubarak BR, Alyemni EA, Abouelhoda M, Monies D, Mustafa AE, Khalil DS, Al Haibi S, Abou Al-Shaar H, Faquih T, El-Kalioby M, Tahir AI, Al Tassan NA.

BMC Res Notes. 2016 Jun 7;9:295. doi: 10.1186/s13104-016-2102-7.

4.

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.

5.

High expression of α-synuclein in damaged mitochondria with PLA2G6 dysfunction.

Sumi-Akamaru H, Beck G, Shinzawa K, Kato S, Riku Y, Yoshida M, Fujimura H, Tsujimoto Y, Sakoda S, Mochizuki H.

Acta Neuropathol Commun. 2016 Mar 30;4:27. doi: 10.1186/s40478-016-0298-3.

6.

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.

7.

Asthenozoospermia and membrane remodeling enzymes: a new role for phospholipase A2.

Anfuso CD, Olivieri M, Bellanca S, Salmeri M, Motta C, Scalia M, Satriano C, La Vignera S, Burrello N, Caporarello N, Lupo G, Calogero AE.

Andrology. 2015 Nov;3(6):1173-82. doi: 10.1111/andr.12101. Epub 2015 Oct 7.

8.
9.

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Goyal M, Bijarnia-Mahay S, Kingsmore S, Farrow E, Saunders C, Saxena R, Verma IC.

Indian J Pediatr. 2015 May;82(5):474-7. doi: 10.1007/s12098-014-1608-z. Epub 2014 Oct 29.

10.

Genetic variants of PLA2G6 are associated with Type 2 diabetes mellitus and triglyceride levels in a Chinese population.

Yan J, Hu C, Jiang F, Zhang R, Wang J, Tang S, Peng D, Chen M, Bao Y, Jia W.

Diabet Med. 2015 Feb;32(2):280-6. doi: 10.1111/dme.12587. Epub 2014 Oct 11.

PMID:
25207958
11.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA.

Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

12.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
13.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

14.

Antipsychotic drugs decrease iPLA2 gene expression in schizophrenia.

Kerr DS, Talib LL, Yamamoto VJ, Ferreira AS, Zanetti MV, Serpa MH, Busatto GF, Van de Bilt MT, Gattaz WF.

Schizophr Res. 2013 Jun;147(1):203-204. doi: 10.1016/j.schres.2013.03.026. Epub 2013 Apr 13. No abstract available.

PMID:
23587695
15.

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
16.

Role of calcium-independent phospholipase A(2)β in human pancreatic islet β-cell apoptosis.

Lei X, Zhang S, Bohrer A, Barbour SE, Ramanadham S.

Am J Physiol Endocrinol Metab. 2012 Dec 1;303(11):E1386-95. doi: 10.1152/ajpendo.00234.2012. Epub 2012 Oct 16.

17.

Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population.

Lv Z, Guo J, Sun Q, Li K, Yu R, Tian J, Yan X, Tang B.

Parkinsonism Relat Disord. 2012 Jun;18(5):641-4. doi: 10.1016/j.parkreldis.2012.02.015. Epub 2012 Mar 27.

PMID:
22459563
18.

Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population.

Tian JY, Tang BS, Shi CH, Lv ZY, Li K, Yu RL, Shen L, Yan XX, Guo JF.

Neurosci Lett. 2012 Apr 18;514(2):156-8. doi: 10.1016/j.neulet.2012.02.078. Epub 2012 Mar 3.

PMID:
22406380
19.

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

Lu CS, Lai SC, Wu RM, Weng YH, Huang CL, Chen RS, Chang HC, Wu-Chou YH, Yeh TH.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):183-91. doi: 10.1002/ajmg.b.32012. Epub 2011 Dec 27.

PMID:
22213678
20.

The PLA2G6 gene in early-onset Parkinson's disease.

Kauther KM, Höft C, Rissling I, Oertel WH, Möller JC.

Mov Disord. 2011 Nov;26(13):2415-7. doi: 10.1002/mds.23851. Epub 2011 Aug 2.

PMID:
21812034

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