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
出版年份 2017 全文链接
标题
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
作者
关键词
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出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 41, Issue 2, Pages 263-275
出版商
Springer Nature
发表日期
2017-11-06
DOI
10.1007/s10545-017-0105-8
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T
- (2016) Mirco Dindo et al. BIOCHIMIE
- Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine
- (2015) Riccardo Montioli et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview
- (2015) Elisa Oppici et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I
- (2015) Elisa Oppici et al. HUMAN MOLECULAR GENETICS
- Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice
- (2014) H. Hoyer-Kuhn et al. Clinical Journal of the American Society of Nephrology
- Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase
- (2013) Elisa Oppici et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes
- (2013) Barbara Cellini et al. CLINICAL BIOCHEMISTRY
- Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications
- (2013) Elisa Oppici et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- 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
- (2012) Sonia Fargue et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1
- (2012) Krisztián Fodor et al. PLOS BIOLOGY
- Molecular insights into primary hyperoxaluria Type I pathogenesis
- (2011) Barbara Cellini Frontiers in Bioscience-Landmark
- Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria
- (2010) Angel L. Pey et al. AMINO ACIDS
- Human liver peroxisomal alanine:glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants
- (2010) Barbara Cellini et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Vitamin B6 salvage enzymes: Mechanism, structure and regulation
- (2010) Martino Luigi di Salvo et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant
- (2010) Barbara Cellini et al. BIOCHIMIE
- Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I
- (2010) B. Cellini et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Construction, Purification and Characterization of Untagged Human Liver Alanine-Glyoxylate Aminotransferase Expressed in Escherichia coli
- (2010) Carla Voltattorni et al. PROTEIN AND PEPTIDE LETTERS
- Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation
- (2009) Barbara Cellini et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Fast predictions of thermodynamics and kinetics of protein–protein recognition from structures: from molecular design to systems biology
- (2009) Daniele Dell’Orco Molecular BioSystems
- Quaternary structure predictions and estimation of mutational effects on the free energy of dimerization of the OMPLA protein
- (2008) Daniele Dell’Orco et al. JOURNAL OF STRUCTURAL BIOLOGY
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