DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.

[1]  B. Plecko,et al.  Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations , 2010, Clinical genetics.

[2]  U. Ramaswami,et al.  GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β‐galactosidase , 2009, Human mutation.

[3]  R. L. Lieberman,et al.  Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. , 2009, Biochemistry.

[4]  D. Lockhart,et al.  The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines , 2009, Journal of Inherited Metabolic Disease.

[5]  R. Lachmann,et al.  Treating lysosomal storage disorders: current practice and future prospects. , 2009, Biochimica et biophysica acta.

[6]  S. Withers,et al.  1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors. , 2008, Bioorganic & medicinal chemistry.

[7]  Nicola Brunetti-Pierri,et al.  GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. , 2008, Molecular genetics and metabolism.

[8]  D. Begley,et al.  Lysosomal storage diseases and the blood-brain barrier. , 2008, Current pharmaceutical design.

[9]  D. Grinberg,et al.  Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America , 2007, Clinical genetics.

[10]  D. Grinberg,et al.  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 , 2006, Human mutation.

[11]  Yoshiyuki Suzuki,et al.  Fibroblast screening for chaperone therapy in β-galactosidosis , 2006, Brain and Development.

[12]  S. Withers,et al.  Fluorescently tagged iminoalditol glycosidase inhibitors as novel biological probes and diagnostics. , 2006, Bioorganic & medicinal chemistry.

[13]  M. Vidailhet,et al.  Dystonia and parkinsonism in GM1 type 3 gangliosidosis , 2005, Movement disorders : official journal of the Movement Disorder Society.

[14]  D. Nosi,et al.  Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis , 2005, Human mutation.

[15]  Seiichiro Ogawa,et al.  Chemical chaperone therapy for brain pathology in GM1-gangliosidosis , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[16]  N. Asano Glycosidase inhibitors: update and perspectives on practical use. , 2003, Glycobiology.

[17]  J. Callahan,et al.  Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. , 2002, Biochimica et biophysica acta.

[18]  H. Kreimer-Erlacher,et al.  Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B , 2001, Human Genetics.

[19]  Yoshiyuki Suzuki,et al.  Galactonojirimycin derivatives restore mutant human β-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse , 2001, Brain and Development.

[20]  C. Scriver The Metabolic and Molecular Bases of Inherited Disease , 2001 .

[21]  S. Zhang,et al.  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. , 2000, American journal of human genetics.

[22]  E. Zammarchi,et al.  β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement , 2000, Human mutation.

[23]  J. Callahan Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. , 1999, Biochimica et biophysica acta.

[24]  R. Stevenson,et al.  β-Galactosidase Gene Mutations in Patients With Slowly Progressive GM1 Gangliosidosis , 1997, Journal of child neurology.

[25]  A. Hinek Biological roles of the non-integrin elastin/laminin receptor. , 1996, Biological chemistry.

[26]  Y. Okamura-Oho,et al.  Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis. , 1996, The Biochemical journal.

[27]  D. Wenger,et al.  Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. , 1994, American journal of human genetics.

[28]  Yoshiyuki Suzuki,et al.  Intracellular processing and maturation of mutant gene products in hereditary β-galactosidase deficiency (β-galactosidosis) , 1994, Human Genetics.

[29]  R. Boustany,et al.  Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. , 1993, American journal of human genetics.

[30]  Y. Okamura-Oho,et al.  The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. , 1993, The Journal of clinical investigation.

[31]  S. Michel,et al.  Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease , 1992, Human Genetics.

[32]  A. Oshima,et al.  Human beta-galactosidase gene mutations in morquio B disease. , 1991, American journal of human genetics.

[33]  E. Nanba,et al.  GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. , 1991, American journal of human genetics.

[34]  N. Yanagisawa,et al.  Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. , 1991, American journal of human genetics.

[35]  S. Naylor,et al.  Isolation, Characterization, and Mapping of a Human Acid β-Galactosidase cDNA , 1990 .

[36]  Oliver H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.

[37]  D. Lockhart,et al.  The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

[38]  Jian‐Qiang Fan,et al.  A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity , 2008, Biological chemistry.

[39]  T. Sugiura,et al.  Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease. , 2003, Molecular genetics and metabolism.

[40]  R. Dwek,et al.  New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. , 2003, Advances in experimental medicine and biology.

[41]  A. Pshezhetsky,et al.  Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. , 2001, Progress in nucleic acid research and molecular biology.