PMID 1487238 1992 A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
rs72555391 in
LOC107986073;GLB1 gene and
Gangliosidosis, Generalized GM1, Type 1 (disorder)
PMID 16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
PMID 8213816 1993 Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
PMID 15365997 2004 Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
PMID 1487238 1992 A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
PMID 25936995 2015 Recurrent and novel GLB1 mutations in India.
PMID 15791924 2005 Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
PMID 1907800 1991 Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
PMID 10338095 1999 Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
PMID 15714521 2005 Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
PMID 16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
PMID 10737981 2000 beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
PMID 10839995 2000 Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
PMID 24737316 2014 Structural basis of pharmacological chaperoning for human β-galactosidase.
PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
PMID 25936995 2015 Recurrent and novel GLB1 mutations in India.
PMID 22128166 2012 Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
PMID 15365997 2004 Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
PMID 15943552 2005 The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
PMID 12393180 2002 Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
PMID 1928092 1991 Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families.
PMID 11511921 2001 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.
PMID 15714521 2005 Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
PMID 16538002 2006 Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject.
PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
PMID 16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.