Condition: Gangliosidosis, Generalized GM1, Type 2


rs1553606128 in GLB1 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

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

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

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

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

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

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

PMID 22128166 2012 Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

PMID 27750150 2017 (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

PMID 25600812 2015 Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

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

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

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 10839995 2000 Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of 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 10841810 2000 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.

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

PMID 24737316 2014 Structural basis of pharmacological chaperoning for human β-galactosidase.

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

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

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

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

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

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

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16626397 2006 Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.

PMID 8068159 1994 However, apparently normal enzyme activity was found in plasma or serum from juvenile GM1 gangliosidosis patients homozygous for a mutation, R201C (201Arg-->Cys), after clotting for 30 min.

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

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

PMID 8112731 1994 Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

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

PMID 26108645 2015 Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.

PMID 1353343 1992 GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

PMID 19644515 2009 Structural bases of GM1 gangliosidosis and Morquio B disease.

PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

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 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

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

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

PMID 10744681 2000 Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

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

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

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

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

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

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

PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

rs72555367 in LOC107986073;GLB1 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 23831247 2013 GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.

PMID 10841810 2000 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.

PMID 22128166 2012 Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

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 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.