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神经元蜡样质脂褐质沉积病研究进展 被引量:5

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出处 《临床荟萃》 CAS 北大核心 2008年第21期1593-1595,共3页 Clinical Focus
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参考文献26

  • 1Augestad LB, Diderichsen J. Neuronal ceroid lipofuscinoses[J]. Tidsskr Nor Laegeforen,2006,126(15) :1908-1910.
  • 2Berkovic SF,Carpenter S,Andermann F,et al. Kufs' disease:a critical reappraisal[J].Brain, 1988,111(1) : 27-62.
  • 3Ranta S, Zhang Y, Ross B, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8[J]. Nature Genet, 1999,2 (3) :233-236.
  • 4Mitchell WA, Wheeler RB,Sharp JD, et al. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLNT) may be allelic to CLN8[J]. Europ J Paediat Neurol,2001(Suppl A) :21-27.
  • 5Ranta S, Topcu M, Tegelberg S, et al. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy[J]. Hum Murat, 2004,23 (4)1300- 305.
  • 6Nijssen PC, Brusse E, Leyten AC, et al. Autosomal dominant adult neuronal eeroid lipofuseinosis: parkinsonism dueto both striatal and nigral dysfunetion[J]. Mov Disord, 2002,17 (3) 482-487.
  • 7Schulz A,Dhar S, Rylova S, et al. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant[J]. Ann Neurol, 2004,56 (3) : 342-350.
  • 8Schulz A, Mousallem T, Venkataramani M, et al. The CLN9 protein, a regulator of dihydroceramide synthase[J]. J Biol Chem, 2006,281 (5) : 2784-2794.
  • 9Barohn RJ, Dowd DC, Kagan-Hallet KS. Congenital ceroid-lipofuscinosis[J]. Pediatr Neurol,1992,8(1) :54-59.
  • 10Caraballo R, Sologuestua A, Ruggieri VL, et al. Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis[J].Rev Neurol,2005,40(3) :135-140.

二级参考文献17

  • 1[1]Zeman W,Dyken P.Neuronal ceroid-lipofuscinosis(Batten's disease):relationship to a maurotic family idiocy? Pediatrics,1969,44:570~583
  • 2[2]KE Wisniewski,E Kida,F Connell,et al.Neuronal ceroid lipofuscinoses:research update.Neurol Sci,2000:21(3 Suppl):49~56
  • 3[3]J Ezaki,I Tanida,N Kanehagi et al.A Lysosomal proteinase,the late infantile neuronal ceroid lipofuscinosis gene(CLN2)product,is essential for degradation of a hydrophobic protein,the subunit c of ATP synthase.J Neurochem,1999:72(6):2573~2582
  • 4[4]Junji Ezaki,Mitsue Takeda-Ezaki,Masato Koike,et al.Characterization of Cln3p,the gene product responsible for juvenile neuronal ceroid lipofuscinosis,as a lysosomal integral membrane glycoprotein.J Neurochem,2003,87:1296~1308
  • 5[5]Golabek AA,Kida E,Walus M,et al.CLN3 proteins regulates lysosomal pH and alters intracellular procssing of Alzheimer's amyloid-β protein precursor and cathepsin D in human cells.Mol Genet Metab,2000,70:203~213
  • 6[6]Puranam KL,Guo WX,Qian WH,et al.CLN3 defines a novel antiapototic pathway operative in neurodegeneration and mediated by ceramide.Mol Genet Metab,1999,66:294~308
  • 7[7]Juha Isosomppi,Jouni Vesa,Anu Jalanko,et al.Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein,Hum Mol Genet,2002,11:885~891
  • 8[8]Claudia Heine,Bettina Koch,Stephan Storch,et al.Defective ER-resident membrane protein CLN6 Affects lysosomal degradation of endocytosed arylsulfatase A J Biol Chem,2004,10:1074
  • 9[9]Liina Lonka,Aija Kyttala,Susanna Ranta,et al.The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.Hum Mol Genet,2000,9:1691~1697
  • 10[10]JM Weimer,E Kriscenski-Perry,Y Elshatory,et al.The neuronal ceroid lipofuscinoses:mutations in different proteins result in similar disese.Neuromolecular Med,2002,1(2):111~124

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