𝔖 Bobbio Scriptorium
✦   LIBER   ✦

GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients

✍ Scribed by Dr Kunihiro Yoshida; Akihiro Oshima; Hitoshi Sakuraba; Takeshi Nakano; Nobuo Yanagisawa; Koji Inui; Shintaro Okada; Ei-ichiro Uyama; Reiko Namba; Kiyohiko Kondo; Shin-ichi Iwasaki; Kiyoshi Takamiya; Yoshiyuki Suzuki

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
569 KB
Volume
31
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Clinical features of adult GM1 gangliosi
Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases
✍ Uday Muthane; Yasha Chickabasaviah; Chris Kaneski; Susurla K. Shankar; Gayathri πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 292 KB

## Abstract Deficiency of enzyme acid β‐galactosidase causes G~M1~ gangliosidosis. Patients with adult G~M1~ gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult G~M1~ gangliosidosis to help improve its recognition. We rep

GM1 gangliosidosis: molecular analysis o
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling
✍ Anna Caciotti; Maria Alice Donati; Elena Procopio; Mirella Filocamo; Wim Kleijer πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 242 KB

The human GLB1 gene produces two alternatively spliced transcripts that encode the lysosomal enzyme Ξ²-galactosidase (GLB1) and the elastin binding protein (EBP). Mutations at the GLB1 locus, which are responsible for the storage disorder GM1 gangliosidosis, may affect either both proteins or GLB1 on

Role of Ξ²-galactosidase and elastin bind
Role of Ξ²-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
✍ Anna Caciotti; Maria Alice Donati; Avihu Boneh; Alessandra d'Azzo; Antonio Feder πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 323 KB

G(M1)-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase (GLB1). The GLB1 gene gives rise to the GLB1 lysosomal enzyme and to the elastin binding protein (EBP), involved in elastic fiber deposition. GLB1 forms a complex with protective protein cathepsin A (PP

Molecular analysis in Japanese patients
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations
✍ Chikahiko Numakura; Changqing Lin; Tohru Ikegami; Per Guldberg; Kiyoshi Hayasaka πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 169 KB

Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). Most CMT1 patients are associated with the duplication of 17p11.2-p12 (CMT1A duplication) and small numbers of patients have mutations of the p