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Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants

Molecular and cellular biology, 2023, Vol.43 (12), p.664-674

2023

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Stabilization of antibody structure upon association to a human carbonic anhydrase IX epitope studied by X-ray crystallography, microcalorimetry, and molecular dynamics simulations

Proteins, structure, function, and bioinformatics, 2008-05, Vol.71 (3), p.1275-1287

2008

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Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia

Molecular and cellular biology, 2018-03, Vol.38 (6)

2018

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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors

Human gene therapy, 2015-03, Vol.26 (3), p.153

2015

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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

Mitochondrion, 2017-05, Vol.34, p.84-90

2017

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New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2.1-A resolution

Immunology, 2009-03, Vol.126 (3), p.378-385

2009

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A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.153-162

2010

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Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies

Molecular genetics and metabolism, 2009-08, Vol.97 (4), p.250-259

2009

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New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2.1-Aa resolution

Immunology, 2009-03, Vol.126 (3), p.378-385

2009

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New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2·1-Å resolution

Immunology, 2009-03, Vol.126 (3), p.378-385

2009

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Cystathionine g-lyase: Clinical, metabolic, genetic, and structural studies

Molecular genetics and metabolism, 2009-08, Vol.97 (4), p.250-259

2009

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New Approaches to Contrastive Linguistics: Empirical and Methodological Challenges

1st edition, 2020

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International Salmonella Typhimurium DT104 infections, 1992-2001

Emerging infectious diseases, 2005-06, Vol.11 (6), p.859-867

2005

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Using data from simultaneous interpreting in contrastive linguistics

New Approaches to Contrastive Linguistics, 2020, Vol.336, p.159-182

2020

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Regulation of the human enkephalin promoter by two isoforms of the catalytic subunit of cyclic adenosine 3', 5'-monophosphate-dependent protein kinase

Molecular endocrinology (Baltimore, Md.), 1991-07, Vol.5 (7), p.921-930

1991

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Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants

Stabilization of antibody structure upon association to a human carbonic anhydrase IX epitope studied by X-ray crystallography, microcalorimetry, and molecular dynamics simulations

Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2.1-A resolution

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies

New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2.1-Aa resolution

New insights into intra- and intermolecular interactions of immunoglobulins: crystal structure of mouse IgG2b-Fc at 2·1-Å resolution

Cystathionine g-lyase: Clinical, metabolic, genetic, and structural studies

New Approaches to Contrastive Linguistics: Empirical and Methodological Challenges

International Salmonella Typhimurium DT104 infections, 1992-2001

Using data from simultaneous interpreting in contrastive linguistics

Regulation of the human enkephalin promoter by two isoforms of the catalytic subunit of cyclic adenosine 3', 5'-monophosphate-dependent protein kinase

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