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 β-Galactosidase

Ítems similars

• The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.
  per: Hinek, A, et al.
  Publicat: (1993)
• Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.
  per: D'Agrosa, R M, et al.
  Publicat: (1992)
• Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
  per: Zhang, S, et al.
  Publicat: (2000)
• GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
  per: Caciotti, Anna, et al.
  Publicat: (2011)
• Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
  per: Boustany, R M, et al.
  Publicat: (1993)