Citations for
1DDHD2, SPG54
Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy
Thabet F, Tlili-Graiess K, Tabarki B.
Arch Dis Child. May;105(5):482. doi: 10.1136/archdischild-2018-316484. Epub 2019 Jan 31. 2020
2DDHD2, SPG54
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. Jul 23;9(8):797. doi: 10.1038/s41419-018-0815-3. 2018
3DDHD2
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 Jr, Cravatt BF.
Biochemistry Feb 6;57(5):827-838. doi: 10.1021/acs.biochem.7b01028. Epub 2017 Dec 26. 2018
4DDHD2
Protein purification and cloning of diacylglycerol lipase from rat brain. 2016 PMID:
Aso C, Araki M, Ohshima N, Tatei K, Hirano T, Obinata H, Kishi M, Kishimoto K, Konishi A, Goto F, Sugimoto H, Izumi T
J Biochem. Jun;159(6):585-97. doi: 10.1093/jb/mvw002. Epub 2016 Jan 19. 2016
5DDHD2, SPG54
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 Jun 27;8:271. doi: 10.1186/s13104-015-1227-4. 2015
6DDHD2, SPG54
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. Oct 14;111(41):14924-9. doi: 10.1073/pnas.1413706111. Epub 2014 Sep 29. 2014
7DDHD2, SPG54
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
8BCORL1, CRTRD, DDHD2, IDBDD, MCM3AP, PNRIID, PTPRT, SLC6A8, SPG54, SYNE1, ZNF528
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.
J Med Genet. Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. 2013
9DDHD2
Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.
Inoue H, Baba T, Sato S, Ohtsuki R, Takemori A, Watanabe T, Tagaya M, Tani K.
Biochim Biophys Acta. 1823(4):930-9. 2012
10DDHD2, SPG54
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; FORGE Canada Consortium, 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 91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. 2012
11DDHD1, DDHD2, SEC23IP
Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells.
Sato S, Inoue H, Kogure T, Tagaya M, Tani K.
FEBS Lett 584(21):4389-95. Epub 2010 Oct 8. 2010
12DDHD2
Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate with two major pathways in oncogenesis.
Kwek SS, Roy R, Zhou H, Climent J, Martinez-Climent JA, Fridlyand J, Albertson DG.
Oncogene 28(17):1892-903. Epub 2009 Mar 30. 2009
13DDHD1, DDHD2, SEC23IP
p125 is localized in endoplasmic reticulum exit sites and involved in their organization.
Shimoi W, Ezawa I, Nakamoto K, Uesaki S, Gabreski G, Aridor M, Yamamoto A, Nagahama M, Tagaya M, Tani K.
J Biol Chem 280(11):10141-8. Epub 2004 Dec 28. 2005
14DDHD2
A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.
Nakajima K, Sonoda H, Mizoguchi T, Aoki J, Arai H, Nagahama M, Tagaya M, Tani K.
J Biol Chem 277(13):11329-35. 2002
15ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LPHN2, LPHN3, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
DNA Res 5(5):277-86. 1998