BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 29278326)

  • 1. Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
    Inloes JM; Kiosses WB; Wang H; Walther TC; Farese RV; Cravatt BF
    Biochemistry; 2018 Feb; 57(5):827-838. PubMed ID: 29278326
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase.
    Inloes JM; Hsu KL; Dix MM; Viader A; Masuda K; Takei T; Wood MR; Cravatt BF
    Proc Natl Acad Sci U S A; 2014 Oct; 111(41):14924-9. PubMed ID: 25267624
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
    Maruyama T; Baba T; Maemoto Y; Hara-Miyauchi C; Hasegawa-Ogawa M; Okano HJ; Enda Y; Matsumoto K; Arimitsu N; Nakao K; Hamamoto H; Sekimizu K; Ohto-Nakanishi T; Nakanishi H; Tokuyama T; Yanagi S; Tagaya M; Tani K
    Cell Death Dis; 2018 Jul; 9(8):797. PubMed ID: 30038238
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cooperative lipolytic control of neuronal triacylglycerol by spastic paraplegia-associated enzyme DDHD2 and ATGL.
    Hofer P; Grabner GF; König M; Xie H; Bulfon D; Ludwig AE; Wolinski H; Zimmermann R; Zechner R; Heier C
    J Lipid Res; 2023 Nov; 64(11):100457. PubMed ID: 37832604
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
    Schuurs-Hoeijmakers JH; Geraghty MT; Kamsteeg EJ; Ben-Salem S; de Bot ST; Nijhof B; van de Vondervoort II; van der Graaf M; Nobau AC; Otte-Höller I; Vermeer S; Smith AC; Humphreys P; Schwartzentruber J; ; Ali BR; Al-Yahyaee SA; Tariq S; Pramathan T; Bayoumi R; Kremer HP; van de Warrenburg BP; van den Akker WM; Gilissen C; Veltman JA; Janssen IM; Vulto-van Silfhout AT; van der Velde-Visser S; Lefeber DJ; Diekstra A; Erasmus CE; Willemsen MA; Vissers LE; Lammens M; van Bokhoven H; Brunner HG; Wevers RA; Schenck A; Al-Gazali L; de Vries BB; de Brouwer AP
    Am J Hum Genet; 2012 Dec; 91(6):1073-81. PubMed ID: 23176823
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.
    Jia F; Wang X; Fu Y; Zhao SM; Lu B; Wang C
    Cell Death Differ; 2024 Mar; 31(3):348-359. PubMed ID: 38332048
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
    Chou YT; Hsu SL; Tsai YS; Lu YJ; Yu KW; Wu HM; Liao YC; Lee YC
    Ann Clin Transl Neurol; 2023 Sep; 10(9):1603-1612. PubMed ID: 37420318
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
    Gonzalez M; Nampoothiri S; Kornblum C; Oteyza AC; Walter J; Konidari I; Hulme W; Speziani F; Schöls L; Züchner S; Schüle R
    Eur J Hum Genet; 2013 Nov; 21(11):1214-8. PubMed ID: 23486545
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DDHD2 promotes lipid droplet catabolism by acting as a TAG lipase and a cargo receptor for lipophagy.
    Gao K; Jia F; Li Y; Wang C
    Autophagy; 2024 Jun; ():1-3. PubMed ID: 38909316
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
    Nicita F; Stregapede F; Tessa A; Bassi MT; Jezela-Stanek A; Primiano G; Pizzuti A; Barghigiani M; Nardella M; Zanni G; Servidei S; Astrea G; Panzeri E; Maghini C; Losito L; Ploski R; Gasperowicz P; Santorelli FM; Bertini E; Travaglini L
    J Neurol; 2019 Nov; 266(11):2657-2664. PubMed ID: 31302745
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
    Alrayes N; Mohamoud HS; Jelani M; Ahmad S; Vadgama N; Bakur K; Simpson M; Al-Aama JY; Nasir J
    BMC Res Notes; 2015 Jun; 8():271. PubMed ID: 26113134
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.
    Chung J; Park J; Lai ZW; Lambert TJ; Richards RC; Zhang J; Walther TC; Farese RV
    Nat Cell Biol; 2023 Aug; 25(8):1101-1110. PubMed ID: 37443287
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case report: Novel compound heterozygous missense mutations in the
    Xu X; Lu F; Du S; Zhao X; Li H; Zhang L; Tang J
    Front Pediatr; 2022; 10():997274. PubMed ID: 36090575
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.
    Inloes JM; Jing H; Cravatt BF
    Biochemistry; 2018 Oct; 57(39):5759-5767. PubMed ID: 30221923
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cooperation of acylglycerol hydrolases in neuronal lipolysis.
    Yu L
    J Lipid Res; 2023 Dec; 64(12):100462. PubMed ID: 37871852
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
    Falk J; Rohde M; Bekhite MM; Neugebauer S; Hemmerich P; Kiehntopf M; Deufel T; Hübner CA; Beetz C
    Hum Mutat; 2014 Apr; 35(4):497-504. PubMed ID: 24478229
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lipid Droplet-Associated Hydrolase Promotes Lipid Droplet Fusion and Enhances ATGL Degradation and Triglyceride Accumulation.
    Goo YH; Son SH; Paul A
    Sci Rep; 2017 Jun; 7(1):2743. PubMed ID: 28578400
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
    Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ
    Neurogenetics; 2016 Oct; 17(4):265-270. PubMed ID: 27679996
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
    Magariello A; Citrigno L; Zuchner S; Gonzalez M; Patitucci A; Sofia V; Conforti FL; Pappalardo I; Mazzei R; Ungaro C; Zappia M; Muglia M
    Eur J Neurol; 2014 Mar; 21(3):e25-6. PubMed ID: 24517879
    [No Abstract]   [Full Text] [Related]  

  • 20. The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
    Akefe IO; Saber SH; Matthews B; Venkatesh BG; Gormal RS; Blackmore DG; Alexander S; Sieriecki E; Gambin Y; Bertran-Gonzalez J; Vitale N; Humeau Y; Gaudin A; Ellis SA; Michaels AA; Xue M; Cravatt B; Joensuu M; Wallis TP; Meunier FA
    EMBO J; 2024 Feb; 43(4):533-567. PubMed ID: 38316990
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.