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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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PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia

Blood, 2018-05, Vol.131 (20), p.2256-2261

2018

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Structural Basis for Inhibition of Mycobacterial and Human Adenosine Kinase by 7‑Substituted 7‑(Het)aryl-7-deazaadenine Ribonucleosides

Journal of medicinal chemistry, 2014-10, Vol.57 (20), p.8268-8279

2014

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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Kidney international, 2024-04, Vol.105 (4), p.799-811

2024

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Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Kidney international reports, 2023-05, Vol.8 (5), p.1112-1116

2023

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Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report

Clinical nephrology, 2018-10, Vol.90 (4), p.296-301

2018

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Towards personalized chemotherapy of acute lymphoblastic leukemia

Oncotarget, 2018-12, Vol.9 (95), p.36728-36729

2018

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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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4410 NOVEL DOMINANT ALG5 VARIANT IN TWO UNRELATED FAMILIES WITH LATE-ONSET ADPKD AND ATYPICAL TUBULOINTERSTITIAL CHANGES

Nephrology, dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)

2023

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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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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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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Kidney international, 2020-12, Vol.98 (6), p.1589-1604

2020

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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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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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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Kidney international, 2020-12, Vol.98 (6), p.1589-1604

2020

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

PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia

Structural Basis for Inhibition of Mycobacterial and Human Adenosine Kinase by 7‑Substituted 7‑(Het)aryl-7-deazaadenine Ribonucleosides

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report

Towards personalized chemotherapy of acute lymphoblastic leukemia

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Mechanisms of NT5C2 -Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia

4410 NOVEL DOMINANT ALG5 VARIANT IN TWO UNRELATED FAMILIES WITH LATE-ONSET ADPKD AND ATYPICAL TUBULOINTERSTITIAL CHANGES

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

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

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

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

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

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

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

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

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

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

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

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

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