U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    PLA2G6 phospholipase A2 group VI [ Homo sapiens (human) ]

    Gene ID: 8398, updated on 14-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

    An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
    Kurtovic-Kozaric A, Singer-Berk M, Wood J, Evangelista E, Panwala L, Hope A, Heinrich SM, Baxter S, Kiel MJ., Free PMC Article

    10/28/2024
    Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

    Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    Wu R, Li X, Meng Z, Li P, He Z, Liang L., Free PMC Article

    08/19/2024
    The role of the PLA2G6 gene in neurodegenerative diseases.

    The role of the PLA2G6 gene in neurodegenerative diseases.
    Deng X, Yuan L, Jankovic J, Deng H.

    07/12/2023
    Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

    Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
    Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR., Free PMC Article

    07/7/2023
    PLA2G6-associated late-onset parkinsonism in a Sudanese family.

    PLA2G6-associated late-onset parkinsonism in a Sudanese family.
    Bakhit Y, Tesson C, Ibrahim MO, Eltom K, Eltazi I, Elsayed LEO, Lesage S, Seidi O, Corvol JC, Wüllner U, Sudanese Parkinson's Disease Study Group., Free PMC Article

    06/21/2023
    Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naive first-episode psychosis patients and nonadherent chronic psychosis patients.

    Association between PLA2 gene polymorphisms and treatment response to antipsychotic medications: A study of antipsychotic-naïve first-episode psychosis patients and nonadherent chronic psychosis patients.
    Nadalin S, Zatković L, Peitl V, Karlović D, Vidrih B, Puljić A, Pavlić SD, Buretić-Tomljanović A.

    06/21/2023
    Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A2 (PNPLA9) and its role in neurodegenerative diseases.

    Molecular basis of unique specificity and regulation of group VIA calcium-independent phospholipase A(2) (PNPLA9) and its role in neurodegenerative diseases.
    Hayashi D, Dennis EA., Free PMC Article

    05/8/2023
    Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.

    Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
    McMillan HJ, Marshall AE, Venkateswaran S, Hartley T, Warman-Chardon J, Ramani AK, Marshall CR, Michaud J, Boycott KM, Dyment DA, Kernohan KD.

    04/30/2022
    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
    Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Undiagnosed Disease Network, Bademci G, Tekin M., Free PMC Article

    04/23/2022
    Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.

    Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.
    Rostampour D, Zolfaghari MR, Gholami M., Free PMC Article

    04/16/2022
    Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

    Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
    Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP.

    04/2/2022
    Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease.

    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.

    12/4/2021
    iPLA2beta Contributes to ER Stress-Induced Apoptosis during Myocardial Ischemia/Reperfusion Injury.

    iPLA(2)β Contributes to ER Stress-Induced Apoptosis during Myocardial Ischemia/Reperfusion Injury.
    Jin T, Lin J, Gong Y, Bi X, Hu S, Lv Q, Chen J, Li X, Chen J, Zhang W, Wang M, Fu G., Free PMC Article

    11/6/2021
    PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.

    PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.
    Daida K, Nishioka K, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N.

    09/4/2021
    Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).

    Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).
    Singh S, Mishra SC, Israrahmed A, Lal H., Free PMC Article

    08/28/2021
    iPLA2beta-mediated lipid detoxification controls p53-driven ferroptosis independent of GPX4.

    iPLA2β-mediated lipid detoxification controls p53-driven ferroptosis independent of GPX4.
    Chen D, Chu B, Yang X, Liu Z, Jin Y, Kon N, Rabadan R, Jiang X, Stockwell BR, Gu W., Free PMC Article

    07/17/2021
    Metabolic Effects of Selective Deletion of Group VIA Phospholipase A2 from Macrophages or Pancreatic Islet Beta-Cells.

    Metabolic Effects of Selective Deletion of Group VIA Phospholipase A(2) from Macrophages or Pancreatic Islet Beta-Cells.
    Turk J, Song H, Wohltmann M, Frankfater C, Lei X, Ramanadham S., Free PMC Article

    06/26/2021
    PLA2G6 guards placental trophoblasts against ferroptotic injury.

    PLA2G6 guards placental trophoblasts against ferroptotic injury.
    Beharier O, Tyurin VA, Goff JP, Guerrero-Santoro J, Kajiwara K, Chu T, Tyurina YY, St Croix CM, Wallace CT, Parry S, Parks WT, Kagan VE, Sadovsky Y., Free PMC Article

    01/9/2021
    Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

    Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.
    Gafner M, Michelson M, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.

    12/5/2020
    Impaired iPLA2beta activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2beta activity as the cause of iron deposition in PLAN.

    Impaired iPLA(2)β activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA(2)β activity as the cause of iron deposition in PLAN.
    Guo YP, Tang BS, Liu HL, Huang JJ, Xu Q, Sun QY, Yan XX, Guo JF.

    09/12/2020
    Genetic testing of the PLA2G6 confirmed presence of compound heterozygous novel mutations in Malaysian siblings with infantile neuroaxonal dystrophy 1

    Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
    Li L, Fong CY, Tay CG, Tae SK, Suzuki H, Kosaki K, Thong MK.

    08/1/2020
    A novel compound heterozygous mutation of the PLA2G6 gene, c.1648delC and c.991G>T, is associated with adult onset ataxia.

    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.

    07/4/2020
    Study demonstrated significant, though weak, effects of the PLA2G6 polymorphism on the risk of nicotine dependence, as well as a significant, though weak, influence of the PLA2G6-smoking interaction on age of schizophrenia onset, with both effects manifested in a gender-specific fashion.

    Association between PLA2G6 gene polymorphism for calcium-independent phospholipase A2 and nicotine dependence among males with schizophrenia.
    Nadalin S, Rebić J, Šendula Jengić V, Peitl V, Karlović D, Buretić-Tomljanović A.

    04/25/2020
    The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies infantile neuroaxonal dystrophy in the child

    [Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
    Tan J, Yan T, Chang R, Yuan D, Pan L, Cai R.

    01/18/2020
    Proportion of calcium-independent (i)PLA2beta-containing mucosal mast cells (MCs) and the expression intensity of sPLA2-IIA was increased in Crohn's disease (CD). In vitro study showed that (i)PLA2beta is involved in the secretion of secretory phospholipases (sPLA2) from human MC line HMC-1. These results suggest that iPLA2beta-mediated release of sPLA2 from intestinal MCs may contribute to CD pathophysiology.

    Possible Involvement of Intracellular Calcium-Independent Phospholipase A(2) in the Release of Secretory Phospholipases from Mast Cells-Increased Expression in Ileal Mast Cells of Crohn's Disease.
    Christerson U, Keita ÅV, Winberg ME, Söderholm JD, Gustafson-Svärd C., Free PMC Article

    01/4/2020
    firstprevious page of 6 nextlast