Condition: Gangliosidosis GM1


rs1559401428 in GLB1 gene and Gangliosidosis GM1 PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 18546276 2008 Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.

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 1928092 1991 Human beta-galactosidase gene mutations in morquio B disease.

PMID 9203065 1997 In case 2, two point mutations were found: a unique G-->A transition at nucleotide 602 causing an Arg-->His substitution in codon 201 (mutation R201H); and a previously identified G-->T transition at nucleotide 1527 causing a Trp-->Cys substitution in codon 509 (mutation W509C), which has been noted in adult and chronic forms of GM1 gangliosidosis.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 16617000 2006 Fibroblast screening for chaperone therapy in beta-galactosidosis.

PMID 19472408 2009 A homozygous case presented with late infantile GM1, while a heterozygous, juvenile case carried p.Y333H together with p.R201H.

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 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 23430499 2013 β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 22675082 2012 Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.

PMID 10737981 2000 beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

PMID 15986423 2005 Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

PMID 16674934 2006 Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

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 23151865 2012 Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.

PMID 25936995 2015 Recurrent and novel GLB1 mutations in India.

PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

PMID 8213816 1993 Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

PMID 26646981 2016 MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

PMID 1907800 1991 Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

PMID 25443580 2015 Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.

PMID 12644936 2003 Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

PMID 1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PMID 15714521 2005 Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

PMID 10338095 1999 Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

PMID 23337983 2013 A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.

PMID 16941474 2006 This observation indicates a possible founder effect in this group and suggests that screening of the p.R59H mutation may be appropriate in GM1-gangliosidosis patients of Gypsy origin.

PMID 11511921 2001 A single French patient had a novel missense point mutation (Q408P) together with a known mutation (T500A) while the mentally retarded patients were both heterozygous for two mutations known in chronic GM1 gangliosidosis together with two novel missense point mutations (Y270D and H281Y) in the vicinity of W273L.

PMID 21214877 2012 Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

PMID 24777551 2014 Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

PMID 22234367 2012 Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.

PMID 15365997 2004 Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

PMID 18524657 2008 GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

PMID 23430803 2013 Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis GM1 PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 18571950 2009 "The potential action of galactose as a ""chemical chaperone"": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient."

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

rs72555391 in LOC107986073;GLB1 gene and Gangliosidosis GM1 PMID 1928092 1991 Human beta-galactosidase gene mutations in morquio B disease.

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 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 23151865 2012 Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

rs587776525 in TMPPE;GLB1 gene and Gangliosidosis GM1 PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 29160035 2018 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

PMID 8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.