Beta-galactosidase
Definition:
References:
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[1]. A Zschoche, et al. Hydrolysis of lactosylceramide by human galactosylceramidase and GM1-beta-galactosidase in a detergent-free system and its stimulation by sphingolipid activator proteins, sap-B and sap-C. Activator proteins stimulate lactosylceramide hydrolysis. Eur J Biochem. 1994 May 15;222(1):83-90. [Content Brief]
[2]. Abdul Mueed Bidchol, et al. Recurrent and novel GLB1 mutations in India. Gene. 2015 Aug 10;567(2):173-81. [Content Brief]
[3]. A Hinek, et al. Biological roles of the non-integrin elastin/laminin receptor. Biol Chem. 1996 Jul-Aug;377(7-8):471-80. [Content Brief]
[4]. Anna Caciotti, et al. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar;25(3):285-92. [Content Brief]
[5]. H Morreau, et al. Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein. J Biol Chem. 1989 Dec 5;264(34):20655-63. [Content Brief]
[6]. Doris Hofer, et al. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat. 2009 Aug;30(8):1214-21. [Content Brief]
[7]. A Hinek, et al. 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. Am J Hum Genet. 2000 Jul;67(1):23-36. [Content Brief]