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

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

Item
http://www.wikidata.org/entity/Q38318365
The elastin receptor complex transduces signals through the catalytic activity of its Neu-1 subunitMuscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissueThree novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Neuraminidase-1 is required for the normal assembly of elastic fibersBone mineral density in mucopolysaccharidosis IVB.Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.Integration of active human beta-galactosidase gene (100 kb) into genome using HSV/AAV amplicon vector.Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
P2860

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

Item
http://www.wikidata.org/entity/Q38318365
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Primary and secondary elastin- ...... m GM1-gangliosidosis patients.
@en
type
label
Primary and secondary elastin- ...... m GM1-gangliosidosis patients.
@en
prefLabel
Primary and secondary elastin- ...... m GM1-gangliosidosis patients.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Primary and secondary elastin- ...... om GM1-gangliosidosis patients
@en
P2093
P2860
P304
P31
P356
10.1016/S0002-9440(10)61251-5
P407
P433
P478
P50
P577
P5875
P698
P932