152 related articles for article (PubMed ID: 31493761)
1. Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.
Chiu CC; Wang HL; Weng YH; Chen RS; Chen CM; Yeh TH; Lu CS; Chen YJ; Liu YC; Huang YZ; Chang KH
Stem Cell Res; 2019 Oct; 40():101552. PubMed ID: 31493761
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
Chu YT; Lin HY; Chen PL; Lin CH
BMC Neurol; 2020 Mar; 20(1):101. PubMed ID: 32183746
[TBL] [Abstract][Full Text] [Related]
3. Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene.
Cheng YC; Lin HI; Syu SH; Lu HE; Huang CY; Lin CH; Hsieh PCH
Stem Cell Res; 2019 May; 37():101432. PubMed ID: 30978640
[TBL] [Abstract][Full Text] [Related]
4. PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model.
Chiu CC; Lu CS; Weng YH; Chen YL; Huang YZ; Chen RS; Cheng YC; Huang YC; Liu YC; Lai SC; Lin KJ; Lin YW; Chen YJ; Chen CL; Yeh TH; Wang HL
Mol Neurobiol; 2019 Jun; 56(6):3835-3853. PubMed ID: 30088174
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 22213678
[TBL] [Abstract][Full Text] [Related]
6. Generation of induced pluripotent stem cell line LNDWCHi001-A from a patient with early-onset Parkinson's disease carrying the homozygous c.1898C > T (p. A633V) mutation in the PLA2G6 gene.
Huang J; Jiang Q; Pang D; Yu Y; Cui Y; Li C; Shang H
Stem Cell Res; 2024 Mar; 75():103305. PubMed ID: 38215561
[TBL] [Abstract][Full Text] [Related]
7. PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia-parkinsonism type 14 and can be relieved by DHA treatment in animal models.
Yeh TH; Liu HF; Chiu CC; Cheng ML; Huang GJ; Huang YC; Liu YC; Huang YZ; Lu CS; Chen YC; Chen HY; Cheng YC
Exp Neurol; 2021 Dec; 346():113863. PubMed ID: 34520727
[TBL] [Abstract][Full Text] [Related]
8. Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A).
Gopurappilly R; Musthafa T; Sukumaran S; Viswanath B; Hasan G
Stem Cell Res; 2023 Mar; 67():103033. PubMed ID: 36706537
[TBL] [Abstract][Full Text] [Related]
9. 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; 645():40-45. PubMed ID: 28213071
[TBL] [Abstract][Full Text] [Related]
10. PLA2G6 variant in Parkinson's disease.
Tomiyama H; Yoshino H; Ogaki K; Li L; Yamashita C; Li Y; Funayama M; Sasaki R; Kokubo Y; Kuzuhara S; Hattori N
J Hum Genet; 2011 May; 56(5):401-3. PubMed ID: 21368765
[TBL] [Abstract][Full Text] [Related]
11. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
Marote A; Pomeshchik Y; Goldwurm S; Collin A; Lamas NJ; Pinto L; Salgado AJ; Roybon L
Stem Cell Res; 2018 Mar; 27():90-94. PubMed ID: 29353703
[TBL] [Abstract][Full Text] [Related]
12. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.
Shi CH; Tang BS; Wang L; Lv ZY; Wang J; Luo LZ; Shen L; Jiang H; Yan XX; Pan Q; Xia K; Guo JF
Neurology; 2011 Jul; 77(1):75-81. PubMed ID: 21700586
[TBL] [Abstract][Full Text] [Related]
13. Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene.
Zhang H; Ma Y; Yan B; Yang X; Li Y; Guan J; Dong R; Liu Y; Gai Z
Stem Cell Res; 2019 Oct; 40():101565. PubMed ID: 31522012
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration.
Ji Y; Li Y; Shi C; Gao Y; Yang J; Liang D; Yang Z; Xu Y
Parkinsonism Relat Disord; 2019 Aug; 65():159-164. PubMed ID: 31196701
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23182313
[TBL] [Abstract][Full Text] [Related]
16. An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.
Li Y; Zhang H; Yan B; Ma Y; Yang X; Guan J; Lv Y; Gao M; Ma J; Gai Z; Liu Y
Stem Cell Res; 2019 Oct; 40():101579. PubMed ID: 31610500
[TBL] [Abstract][Full Text] [Related]
17. Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease.
Liu H; Wang Y; Pan H; Xu K; Jiang L; Zhao Y; Xu Q; Sun Q; Tan J; Yan X; Li J; Tang B; Guo J
Neurobiol Aging; 2021 May; 101():297.e5-297.e8. PubMed ID: 33279242
[TBL] [Abstract][Full Text] [Related]
18. Azoramide protects iPSC-derived dopaminergic neurons with PLA2G6 D331Y mutation through restoring ER function and CREB signaling.
Ke M; Chong CM; Zeng H; Huang M; Huang Z; Zhang K; Cen X; Lu JH; Yao X; Qin D; Su H
Cell Death Dis; 2020 Feb; 11(2):130. PubMed ID: 32071291
[TBL] [Abstract][Full Text] [Related]
19. A collection of integration-free iPSCs derived from Parkinson's disease patients carrying mutations in the GBA1 gene.
Rodríguez-Traver E; Díaz-Guerra E; Rodríguez C; Fernández P; Arenas F; Araúzo-Bravo M; Orera M; Kulisevsky J; Moratalla R; Vicario C
Stem Cell Res; 2019 Jul; 38():101482. PubMed ID: 31203165
[TBL] [Abstract][Full Text] [Related]
20. Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease.
Zhou Q; Yen A; Rymarczyk G; Asai H; Trengrove C; Aziz N; Kirber MT; Mostoslavsky G; Ikezu T; Wolozin B; Bolotina VM
Nat Commun; 2016 Jan; 7():10332. PubMed ID: 26755131
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]