173 related articles for article (PubMed ID: 16538002)
1. 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]
2. 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]
3. 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]
4. 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]
5. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A; Zhang S; Smith AC; Callahan JW
Am J Hum Genet; 2000 Jul; 67(1):23-36. PubMed ID: 10841810
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.
Luu AR; Wong C; Agrawal V; Wise N; Handyside B; Lo MJ; Pacheco G; Felix JB; Giaramita A; d'Azzo A; Vincelette J; Bullens S; Bunting S; Christianson TM; Hague CM; LeBowitz JH; Yogalingam G
J Biol Chem; 2020 Sep; 295(39):13556-13569. PubMed ID: 32727849
[TBL] [Abstract][Full Text] [Related]
9. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.
Lehman A; Mattman A; Sin D; Pare P; Zong Z; d'Azzo A; Campos Y; Sirrs S; Hinek A
Mol Genet Metab; 2012 May; 106(1):99-103. PubMed ID: 22386972
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly.
Hinek A; Pshezhetsky AV; von Itzstein M; Starcher B
J Biol Chem; 2006 Feb; 281(6):3698-710. PubMed ID: 16314420
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW
Biochim Biophys Acta; 1999 Oct; 1455(2-3):85-103. PubMed ID: 10571006
[TBL] [Abstract][Full Text] [Related]
16. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Paschke E; Milos I; Kreimer-Erlacher H; Hoefler G; Beck M; Hoeltzenbein M; Kleijer W; Levade T; Michelakakis H; Radeva B
Hum Genet; 2001 Aug; 109(2):159-66. PubMed ID: 11511921
[TBL] [Abstract][Full Text] [Related]
17. Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
Hossain MA; Higaki K; Shinpo M; Nanba E; Suzuki Y; Ozono K; Sakai N
Brain Dev; 2016 Feb; 38(2):175-80. PubMed ID: 26259553
[TBL] [Abstract][Full Text] [Related]
18. New mutations in two Dutch patients with early infantile galactosialidosis.
Groener J; Maaswinkel-Mooy P; Smit V; van der Hoeven M; Bakker J; Campos Y; d'Azzo A
Mol Genet Metab; 2003 Mar; 78(3):222-8. PubMed ID: 12649068
[TBL] [Abstract][Full Text] [Related]
19. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
Bonten E; van der Spoel A; Fornerod M; Grosveld G; d'Azzo A
Genes Dev; 1996 Dec; 10(24):3156-69. PubMed ID: 8985184
[TBL] [Abstract][Full Text] [Related]
20. Synthetic ligands of the elastin receptor induce elastogenesis in human dermal fibroblasts via activation of their IGF-1 receptors.
Qa'aty N; Vincent M; Wang Y; Wang A; Mitts TF; Hinek A
J Dermatol Sci; 2015 Dec; 80(3):175-85. PubMed ID: 26475432
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]