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Dimers of DNA-PK create a stage for DNA double-strand break repair

Nature structural & molecular biology, 2021-01, Vol.28 (1), p.13-19

2021

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Multicomponent assemblies in DNA-double-strand break repair by NHEJ

Current opinion in structural biology, 2019-04, Vol.55, p.154-160

2019

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Mechanism of efficient double-strand break repair by a long non-coding RNA

Nucleic acids research, 2020-11, Vol.48 (19), p.10953-10972

2020

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Human molecular genetics, 2019-11, Vol.28 (22), p.3805-3814

2019

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Thiopurine intolerance-causing mutations in NUDT15 induce temperature-dependent destabilization of the catalytic site

Biochimica et biophysica acta. Proteins and proteomics, 2019-04, Vol.1867 (4), p.376-381

2019

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SAP domain forms a flexible part of DNA aperture in Ku70/80

The FEBS journal, 2021-07, Vol.288 (14), p.4382-4393

2021

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Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1

Biochemical journal, 2012-04, Vol.443 (2), p.535-547

2012

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Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation

Leukemia, 2018-06, Vol.32 (6), p.1393-1403

2018

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Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.287-294

2015

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Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

Human mutation, 2010-04, Vol.31 (4), p.445-455

2010

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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.469-477

2012

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Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Biochemistry (Easton), 2012-06, Vol.51 (23), p.4755-4763

2012

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Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling

Biochemistry (Easton), 2010-12, Vol.49 (49), p.10526-10534

2010

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Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis

Biochimica et biophysica acta, 2013-12, Vol.1834 (12), p.2691-2701

2013

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Oligomeric interface modulation causes misregulation of purine 5´-nucleotidase in relapsed leukemia

BMC biology, 2016-10, Vol.14 (1), p.91-91, Article 91

2016

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.49-55

2011

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Conformationally constrained nucleoside phosphonic acids--potent inhibitors of human mitochondrial and cytosolic 5'(3')-nucleotidases

Organic & biomolecular chemistry, 2014-10, Vol.12 (40), p.7971-7982

2014

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Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Biochemistry (Easton), 2012-07, Vol.51 (27), p.5540-5540

2012

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Mechanisms of NT5C2 -Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia

Molecular cancer therapeutics, 2019-10, Vol.18 (10), p.1887-1895

2019

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Rheumatology (Oxford, England), 2018-07, Vol.57 (7), p.1180-1185

2018

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Backbone resonance assignments of human cytosolic dNT-1 nucleotidase

Biomolecular NMR assignments, 2014-10, Vol.8 (2), p.425-428

2014

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Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Molecular genetics and metabolism, 2011, Vol.102 (1), p.61-68

2011

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Stages, scaffolds and strings in the spatial organisation of non-homologous end joining: Insights from X-ray diffraction and Cryo-EM

Progress in biophysics and molecular biology, 2021-08, Vol.163, p.60-73

2021

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Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection

Nature communications, 2018-03, Vol.9 (1), p.897-11, Article 897

2018

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Mechanism of efficient double-strand break repair by a long non-coding RNA

Nucleic acids research, 2021-01, Vol.49 (2), p.1199-1200

2021

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Dimers of DNA-PK create a stage for DNA double-strand break repair

Multicomponent assemblies in DNA-double-strand break repair by NHEJ

Mechanism of efficient double-strand break repair by a long non-coding RNA

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Thiopurine intolerance-causing mutations in NUDT15 induce temperature-dependent destabilization of the catalytic site

SAP domain forms a flexible part of DNA aperture in Ku70/80

Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1

Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling

Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis

Oligomeric interface modulation causes misregulation of purine 5´-nucleotidase in relapsed leukemia

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

Conformationally constrained nucleoside phosphonic acids--potent inhibitors of human mitochondrial and cytosolic 5'(3')-nucleotidases

Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Mechanisms of NT5C2 -Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Backbone resonance assignments of human cytosolic dNT-1 nucleotidase

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Stages, scaffolds and strings in the spatial organisation of non-homologous end joining: Insights from X-ray diffraction and Cryo-EM

Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection

Mechanism of efficient double-strand break repair by a long non-coding RNA

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