Glb1

Summary

Gene Symbol: Glb1
Description: galactosidase, beta 1
Alias: beta-galactosidase
Species: rat
Products:     Glb1

Top Publications

  1. Bidchol A, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar V, et al. Recurrent and novel GLB1 mutations in India. Gene. 2015;567:173-81 pubmed publisher
    GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-d-galactosidase...
  2. Boonen M, Vogel P, Platt K, Dahms N, Kornfeld S. Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. Mol Biol Cell. 2009;20:4381-9 pubmed publisher
  3. Minamino T, Miyauchi H, Yoshida T, Ishida Y, Yoshida H, Komuro I. Endothelial cell senescence in human atherosclerosis: role of telomere in endothelial dysfunction. Circulation. 2002;105:1541-4 pubmed
    ..Vascular endothelial cells with senescence-associated phenotypes are present in human atherosclerotic lesions, and endothelial cell senescence induced by telomere shortening may contribute to atherogenesis. ..
  4. Morrone A, Bardelli T, Donati M, Giorgi M, Di Rocco M, Gatti R, et al. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat. 2000;15:354-66 pubmed
    GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1)...
  5. Weismann C, Ferreira J, Keeler A, Su Q, Qui L, Shaffer S, et al. Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. Hum Mol Genet. 2015;24:4353-64 pubmed publisher
    GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease where GLB1 gene mutations result in a reduction or absence of lysosomal acid β-galactosidase (βgal) activity...
  6. Zhang G, Cao H, Li X, Zhao H, Geller A. Genetic labeling of both the axons of transduced, glutamatergic neurons in rat postrhinal cortex and their postsynaptic neurons in other neocortical areas by herpes simplex virus vectors that coexpress an axon-targeted ?-galactosidase and wheat germ . Brain Res. 2010;1361:1-11 pubmed publisher
    ..The neocortical circuit mapping capabilities developed here may support mapping specific neocortical circuits that have critical roles in cognitive learning. ..
  7. Santamaria R, Blanco M, Chabas A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clin Genet. 2007;71:273-9 pubmed
    ..disorder caused by the absence or reduction of lysosomal beta-galactosidase activity because of mutations in the GLB1 gene...
  8. Paschke E, Milos I, Kreimer Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, et al. 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. Hum Genet. 2001;109:159-66 pubmed
    ..Our results confirm the high impact of Trp 273 for the function of beta-galactosidase and the expression of the Morquio B phenotype. In addition, a second domain around the amino acids 400-500 may also be of significance. ..
  9. Jumawan J, Celano P, Horowitz C, Lau H, Koldovsky O. Effect of cortisone or L-triiodothyronine administration to pregnant rats on the activity of fetal intestinal disaccharidases and lysosomal acid beta-galactosidase. Biol Neonate. 1977;32:211-7 pubmed
    ..Lactase activity was increased by 25% in the jejunum by the higher dose of cortisone. Both doses of cortisone increased ileal lactase. Jejunal acid-beta-galactosidase activity was decreased in fetuses of T3-treated mothers. ..

More Information

Publications17

  1. Rajashree S, Puvanakrishnan R. Alterations in certain lysosomal glycohydrolases and cathepsins in rats on dexamethasone administration. Mol Cell Biochem. 1996;154:165-70 pubmed
    ..Thus, it could be seen that dexamethasone alters the pattern of glycohydrolases and cathepsins, which are involved in protein degradation. ..
  2. Sleat D, Sohar I, Lackland H, Majercak J, Lobel P. Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. J Biol Chem. 1996;271:19191-8 pubmed
    ..This finding raises important questions about the cellular location and function of palmitoyl protein thioesterase, mutations in which result in the neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis. ..
  3. Douglas T, Kimmel K, Dawson P. Genetically controlled variation of "acid" beta-galactosidase detected in Rattus norvegicus by isoelectric focusing. Genetics. 1982;100:455-73 pubmed
    ..The beta-galactosidase present in the bands used for Glb-1 typing resembles human GM1 gangliosidase (GLB1) with respect to pH optimum, substrate specificity, and susceptibility to inhibition by PMB...
  4. Leeper L, Henning S. Hormonal control of postnatal development of ileal neuraminidase and acid beta-galactosidase. Biol Neonate. 1983;44:28-35 pubmed
    ..It is likely that glucocorticoids act as the primary cue in the maturation of these enzymes, but with T4 interaction necessary for the normal pattern to be elicited. ..
  5. Felton J, Meisler M, Paigen K. A locus determining beta-galactosidase activity in the mouse. J Biol Chem. 1974;249:3267-72 pubmed
  6. Majumder G, Turkington R. Acrosomal and lysosomal isoenzymes of beta-galactosidase and N-acetyl-beta-glucosaminidase in rat testis. Biochemistry. 1974;13:2857-64 pubmed
  7. Gibb S, Håkansson E, Lundin L, Shire J. Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res. 1981;37:95-103 pubmed
  8. Mayer F, Pereira F, Fensom A, Slade C, Matte U, Giugliani R. New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression. Mol Genet Metab. 2009;96:148 pubmed publisher