Structural Basis of a Point Mutation that Causes the Genetic Disease Aspartylglucosaminuria
نویسندگان
چکیده
منابع مشابه
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.
Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by a metabolic disorder of lysosomes to digest Asn-linked glycoproteins. The specific enzyme linked to AGU is a lysosomal hydrolase called glycosylasparaginase. Crystallographic studies revealed that a surface loop blocks the catalytic center of the mature hydrolase. Autoproteolysis is therefore required to remove this P loop an...
متن کاملCarriers of the aspartylglucosaminuria genetic mutation and chronic arthritis.
OBJECTIVE To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease. METHODS A group of 173 unrelated patients with rheumatoid arthritis (RA) but with no family members with AGU each gave a blood sample for AGUFin major mutation DNA analysis. A group of 131 AGU carriers who were parents of patien...
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The present study is an attempt to propose a mutation-based real-coded genetic algorithm (MBRCGA) for sizing and layout optimization of planar and spatial truss structures. The Gaussian mutation operator is used to create the reproduction operators. An adaptive tournament selection mechanism in combination with adaptive Gaussian mutation operators are proposed to achieve an effective search in ...
متن کاملMolecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is enriched in the Finnish population, where 98% of AGU alleles contain one founder mutation, AGU(Fin). Elsewhere in the world, we and others have described 18 different sporadic AGU mutations. Many of these are predicted to interfere with ...
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ژورنال
عنوان ژورنال: Structure
سال: 2014
ISSN: 0969-2126
DOI: 10.1016/j.str.2014.09.014