These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
171 related articles for article (PubMed ID: 20163628)
1. 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]
2. 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]
3. Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. Coutinho MF; Lacerda L; Macedo-Ribeiro S; Baptista E; Ribeiro H; Prata MJ; Alves S Clin Genet; 2012 Apr; 81(4):379-93. PubMed ID: 21214877 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Short-term, high dose enzyme replacement therapy in sialidosis mice. Wang D; Bonten EJ; Yogalingam G; Mann L; d'Azzo A Mol Genet Metab; 2005 Jul; 85(3):181-9. PubMed ID: 15979029 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. Kwak JE; Son MY; Son YS; Son MJ; Cho YS Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812 [TBL] [Abstract][Full Text] [Related]
12. Lysosomal multienzyme complex: pros and cons of working together. Bonten EJ; Annunziata I; d'Azzo A Cell Mol Life Sci; 2014 Jun; 71(11):2017-32. PubMed ID: 24337808 [TBL] [Abstract][Full Text] [Related]
13. A case of suspected lysosomal storage disease in a neonatal Japanese black calf. Mikami O; Anjiki T; Yamato O; Nakajima Y J Vet Med A Physiol Pathol Clin Med; 2006 Mar; 53(2):77-80. PubMed ID: 16466460 [TBL] [Abstract][Full Text] [Related]
14. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Pshezhetsky AV; Richard C; Michaud L; Igdoura S; Wang S; Elsliger MA; Qu J; Leclerc D; Gravel R; Dallaire L; Potier M Nat Genet; 1997 Mar; 15(3):316-20. PubMed ID: 9054950 [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. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles. Dennis JA; Healy PJ Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233 [TBL] [Abstract][Full Text] [Related]
17. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. Loren DJ; Campos Y; d'Azzo A; Wyble L; Grange DK; Gilbert-Barness E; White FV; Hamvas A J Perinatol; 2005 Jul; 25(7):491-4. PubMed ID: 15908988 [TBL] [Abstract][Full Text] [Related]
18. [Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis]. García Hernández L; Sierra Sirvent J; Gort Mas L; Coll Roseli MJ Arch Argent Pediatr; 2018 Feb; 116(1):e88-e92. PubMed ID: 29333829 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]