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Publications

Snapshots of actin and tubulin folding inside the TRiC chaperonin.

Kelly JJ. et al, (2022), Nature structural & molecular biology

Defining substrate selection by rhinoviral 2A proteinase through its crystal structure with the inhibitor zVAM.fmk.

Deutschmann-Olek KM. et al, (2021), Virology, 562, 128 - 141

Structure and activation mechanism of the human liver-type glutaminase GLS2.

Ferreira IM. et al, (2021), Biochimie, 185, 96 - 104

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia

Mackinnon SR. et al, (2021), ACS Chemical Biology, 16, 586 - 595

Structural biochemistry coming of age in the study of genetic metabolic disorders.

Yue WW., (2021), Biochimie, 183, 1 - 2

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Grünert SC. et al, (2021), Biochimie, 183, 55 - 62

Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain.

Bezerra GA. et al, (2021), Biochimie

A Single-Stranded DNA-Encoded Chemical Library Based on a Stereoisomeric Scaffold Enables Ligand Discovery by Modular Assembly of Building Blocks.

Bassi G. et al, (2020), Advanced science (Weinheim, Baden-Wurttemberg, Germany), 7

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Paternoster L. et al, (2020), American journal of medical genetics. Part A, 182, 2685 - 2693

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Neuray C. et al, (2020), Brain : a journal of neurology, 143, 2388 - 2397

Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase.

Sokolovskaya OM. et al, (2020), Biochimie

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism.

Bezerra GA. et al, (2020), IUCrJ, 7, 693 - 706

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.

Bailey HJ. et al, (2020), Nature communications, 11

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Wortmann SB. et al, (2020), American journal of human genetics, 106, 256 - 263

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N. et al, (2019), Genet Med

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 (BCAT2) deficiency.

Knerr I. et al, (2019), J Inherit Metab Dis

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Heuberger K. et al, (2019), Biochim Biophys Acta Mol Basis Dis, 1865, 1265 - 1272

15-deoxy-Δ12,14-Prostaglandin J2 inhibits human soluble epoxide hydrolase by a dual orthosteric and allosteric mechanism.

Abis G. et al, (2019), Commun Biol, 2

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.

Fox NG. et al, (2019), Nat Commun, 10

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

Wempe MF. et al, (2019), J Inherit Metab Dis, 42, 565 - 574

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