Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches

2017 ◽  
pp. 191-225 ◽  
Author(s):  
Meritxell B. Cutrona ◽  
Niamh E. Morgan ◽  
Jeremy C. Simpson
Keyword(s):  
Type I ◽  
Therapeutic Approaches ◽  
Type I Procollagen ◽  
Skeletal Disorders

scholarly journals Current and Future Treatments for Classic Galactosemia

2021 ◽  
Vol 11 (2) ◽  
pp. 75 ◽  
Author(s):  
Britt Delnoy ◽  
Ana I. Coelho ◽  
Maria Estela Rubio-Gozalbo
Keyword(s):  
Standard Of Care ◽  
Type I ◽  
Therapeutic Approaches ◽  
Restricted Diet ◽  
Galactose Metabolism ◽  
Galt Activity ◽  
Classic Galactosemia ◽  
Pathogenic Factors ◽  
Future Treatments ◽  
Novel Therapeutic

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications. The development of several animal models of classic galactosemia that (partly) mimic the biochemical and clinical phenotypes and the resolution of the crystal structure of GALT have provided important insights; however, precise pathophysiology remains to be elucidated. Novel therapeutic approaches currently being explored focus on several of the pathogenic factors that have been described, aiming to (i) restore GALT activity, (ii) influence the cascade of events and (iii) address the clinical picture. This review attempts to provide an overview on the latest advancements in therapy approaches.

scholarly journals Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.

1985 ◽  
Vol 260 (29) ◽  
pp. 15996-16003 ◽  
Author(s):  
Y Hojima ◽  
M van der Rest ◽  
D J Prockop
Keyword(s):  
Chick Embryo ◽  
Type I ◽  
Purification And Characterization ◽  
Type I Procollagen ◽  
Carboxyl Terminal

scholarly journals Temperature-induced post-translational over-modification of type I procollagen. Effects of over-modification of the protein on the rate of cleavage by procollagen N-proteinase and on self-assembly of collagen into fibrils.

1992 ◽  
Vol 267 (4) ◽  
pp. 2650-2655 ◽  
Author(s):  
A Torre-Blanco ◽  
E Adachi ◽  
Y Hojima ◽  
J A Wootton ◽  
R R Minor ◽  
...  
Keyword(s):  
Self Assembly ◽  
Type I ◽  
Type I Procollagen

scholarly journals Type I Procollagen N-proteinase from Chick Embryo Tendons

1989 ◽  
Vol 264 (19) ◽  
pp. 11336-11345 ◽  
Author(s):  
Y Hojima ◽  
J A McKenzie ◽  
M van der Rest ◽  
D J Prockop
Keyword(s):  
Chick Embryo ◽  
Type I ◽  
Type I Procollagen

N-phenethyl caffeamide and photodamage: Protecting skin by inhibiting type I procollagen degradation and stimulating collagen synthesis

2014 ◽  
Vol 72 ◽  
pp. 154-161 ◽  
Author(s):  
Hsiu-Mei Chiang ◽  
Chien-Wen Chen ◽  
Tzu-Yu Lin ◽  
Yueh-Hsiung Kuo
Keyword(s):  
Collagen Synthesis ◽  
Type I ◽  
Type I Procollagen
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