Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6

2017 ◽  
Vol 41 (2) ◽  
pp. 263-275 ◽  
Author(s):  
Mirco Dindo ◽  
Elisa Oppici ◽  
Daniele Dell’Orco ◽  
Rosa Montone ◽  
Barbara Cellini
Keyword(s):  
Vitamin B6 ◽  
Cellular Response ◽  
Primary Hyperoxaluria ◽  
Type I ◽  
Dimer Interface ◽  
Hyperoxaluria Type I ◽  
Molecular Effects ◽  
Glyoxylate Aminotransferase ◽  
Primary Hyperoxaluria Type I ◽  
Hyperoxaluria Type

scholarly journals Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

2013 ◽  
Vol 2013 ◽  
pp. 1-15 ◽  
Author(s):  
Angel L. Pey ◽  
Armando Albert ◽  
Eduardo Salido
Keyword(s):  
Primary Hyperoxaluria ◽  
Therapeutic Strategies ◽  
Single Amino Acid ◽  
Type I ◽  
Protein Homeostasis ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type I ◽  
Glyoxylate Aminotransferase ◽  
Primary Hyperoxaluria Type I ◽  
Hyperoxaluria Type

Alanine-glyoxylate aminotransferase catalyzes the transamination between L-alanine and glyoxylate to produce pyruvate and glycine using pyridoxal 5′-phosphate (PLP) as cofactor. Human alanine-glyoxylate aminotransferase is a peroxisomal enzyme expressed in the hepatocytes, the main site of glyoxylate detoxification. Its deficit causes primary hyperoxaluria type I, a rare but severe inborn error of metabolism. Single amino acid changes are the main type of mutation causing this disease, and considerable effort has been dedicated to the understanding of the molecular consequences of such missense mutations. In this review, we summarize the role of protein homeostasis in the basic mechanisms of primary hyperoxaluria. Intrinsic physicochemical properties of polypeptide chains such as thermodynamic stability, folding, unfolding, and misfolding rates as well as the interaction of different folding states with protein homeostasis networks are essential to understand this disease. The view presented has important implications for the development of new therapeutic strategies based on targeting specific elements of alanine-glyoxylate aminotransferase homeostasis.

Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I

2018 ◽  
Vol 34 (2) ◽  
pp. 319-327 ◽  
Author(s):  
Alexandra Bruel ◽  
Justine Bacchetta ◽  
Tiphanie Ginhoux ◽  
Christelle Rodier-Bonifas ◽  
Anne-Laure Sellier-Leclerc ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Microvascular Dysfunction ◽  
Type I ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type I ◽  
Primary Hyperoxaluria Type I ◽  
Hyperoxaluria Type
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