Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations
about
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type ICrystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implicationsThe Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type IThe consensus-based approach for gene/enzyme replacement therapies and crystallization strategies: the case of human alanine-glyoxylate aminotransferaseMutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluriaCystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.Rapid profiling of disease alleles using a tunable reporter of protein misfolding.Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.Folding Defects Leading to Primary Hyperoxaluria.S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
P2860
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P2860
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
Consequences of missense mutat ...... udy of a spectrum of mutations
@ast
Consequences of missense mutat ...... udy of a spectrum of mutations
@en
Consequences of missense mutat ...... udy of a spectrum of mutations
@en-gb
Consequences of missense mutat ...... udy of a spectrum of mutations
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type
label
Consequences of missense mutat ...... udy of a spectrum of mutations
@ast
Consequences of missense mutat ...... udy of a spectrum of mutations
@en
Consequences of missense mutat ...... udy of a spectrum of mutations
@en-gb
Consequences of missense mutat ...... udy of a spectrum of mutations
@nl
prefLabel
Consequences of missense mutat ...... udy of a spectrum of mutations
@ast
Consequences of missense mutat ...... udy of a spectrum of mutations
@en
Consequences of missense mutat ...... udy of a spectrum of mutations
@en-gb
Consequences of missense mutat ...... udy of a spectrum of mutations
@nl
P1476
Consequences of missense mutat ...... udy of a spectrum of mutations
@en
P2093
P304
P356
10.1016/J.YMGME.2006.07.013
P407
P577
2006-09-12T00:00:00Z