Associated Papers
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
38028607 (PubMed )
Supplement: Table1.XLSX › Sheet1
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma SDK et al.
Jimd Reports, 2021
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
Karimzadeh P et al.
Bmc Medical Genetics, 2017
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
Coutinho MF et al.
Clinical Genetics, 2012
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R et al.
Journal of Lipid Research, 2007
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.
Santamaria R et al.
Human Mutation, 2006
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
Caciotti A et al.
The American Journal of Pathology, 2005
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T et al.
Human Mutation, 2004
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Funghini S et al.
Human Mutation, 2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Caciotti A et al.
Human Genetics, 2003
Select a paper to view details