BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 15110321)

  • 1. New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.
    Malvagia S; Morrone A; Caciotti A; Bardelli T; d'Azzo A; Ancora G; Zammarchi E; Donati MA
    Mol Genet Metab; 2004 May; 82(1):48-55. PubMed ID: 15110321
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
    Caciotti A; Donati MA; Boneh A; d'Azzo A; Federico A; Parini R; Antuzzi D; Bardelli T; Nosi D; Kimonis V; Zammarchi E; Morrone A
    Hum Mutat; 2005 Mar; 25(3):285-92. PubMed ID: 15714521
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
    Tatano Y; Takeuchi N; Kuwahara J; Sakuraba H; Takahashi T; Takada G; Itoh K
    J Med Invest; 2006 Feb; 53(1-2):103-12. PubMed ID: 16538002
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lysosomal high molecular weight multienzyme complex.
    Ostrowska H; Krukowska K; Kalinowska J; Orłowska M; Lengiewicz I
    Cell Mol Biol Lett; 2003; 8(1):19-24. PubMed ID: 12655352
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Orientation of three lysosomal enzymes in the mouse inner ear and hearing loss in enzyme gene deficiency].
    Guo YK; Xie DH; Yang XM
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2006 Feb; 31(1):79-84. PubMed ID: 16562682
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
    Richard C; Tranchemontagne J; Elsliger MA; Mitchell GA; Potier M; Pshezhetsky AV
    Hum Mutat; 1998; 11(6):461-9. PubMed ID: 9603439
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.
    van der Spoel A; Bonten E; d'Azzo A
    EMBO J; 1998 Mar; 17(6):1588-97. PubMed ID: 9501080
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
    Oheda Y; Kotani M; Murata M; Sakuraba H; Kadota Y; Tatano Y; Kuwahara J; Itoh K
    Glycobiology; 2006 Apr; 16(4):271-80. PubMed ID: 16361247
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of galactosialidosis with a homozygous Q49R point mutation.
    Matsumoto N; Gondo K; Kukita J; Higaki K; Paragison RC; Nanba E
    Brain Dev; 2008 Oct; 30(9):595-8. PubMed ID: 18396002
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex.
    Kreutzer R; Kreutzer M; Sewell AC; Techangamsuwan S; Leeb T; Baumgärtner W
    Biochim Biophys Acta; 2009 Oct; 1792(10):982-7. PubMed ID: 19607915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1.
    Seyrantepe V; Hinek A; Peng J; Fedjaev M; Ernest S; Kadota Y; Canuel M; Itoh K; Morales CR; Lavoie J; Tremblay J; Pshezhetsky AV
    Circulation; 2008 Apr; 117(15):1973-81. PubMed ID: 18391110
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
    Bonten EJ; Campos Y; Zaitsev V; Nourse A; Waddell B; Lewis W; Taylor G; d'Azzo A
    J Biol Chem; 2009 Oct; 284(41):28430-28441. PubMed ID: 19666471
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis.
    Bonten EJ; Wang D; Toy JN; Mann L; Mignardot A; Yogalingam G; D'Azzo A
    FASEB J; 2004 Jun; 18(9):971-3. PubMed ID: 15084520
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle.
    Masoudi AA; Yamato O; Yoneda K; Tsuji T; Mikami O; Kunieda T
    Anim Sci J; 2009 Oct; 80(5):611-5. PubMed ID: 20163628
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).
    Itoh K; Shimmoto M; Utsumi K; Mizoguchi N; Miharu N; Ohama K; Sakuraba H
    Biochem Biophys Res Commun; 1998 Jun; 247(1):12-7. PubMed ID: 9636645
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
    d'Azzo A; Bonten E
    Biochem Soc Trans; 2010 Dec; 38(6):1453-7. PubMed ID: 21118106
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
    Naganawa Y; Itoh K; Shimmoto M; Kamei S; Takiguchi K; Doi H; Sakuraba H
    Biochem J; 1999 Jun; 340 ( Pt 2)(Pt 2):467-74. PubMed ID: 10333491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.
    Zammarchi E; Donati MA; Morrone A; Donzelli GP; Zhou XY; d'Azzo A
    Am J Med Genet; 1996 Aug; 64(3):453-8. PubMed ID: 8862621
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Galactosialidosis: review and analysis of CTSA gene mutations.
    Caciotti A; Catarzi S; Tonin R; Lugli L; Perez CR; Michelakakis H; Mavridou I; Donati MA; Guerrini R; d'Azzo A; Morrone A
    Orphanet J Rare Dis; 2013 Aug; 8():114. PubMed ID: 23915561
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
    Caciotti A; Donati MA; Bardelli T; d'Azzo A; Massai G; Luciani L; Zammarchi E; Morrone A
    Am J Pathol; 2005 Dec; 167(6):1689-98. PubMed ID: 16314480
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.