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Structural basis of homologous recombination

Cellular and molecular life sciences : CMLS, 2020-01, Vol.77 (1), p.3-18

2020

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Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase

Nature communications, 2024-04, Vol.15 (1), p.3248-3248, Article 3248

2024

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Architecture and regulation of filamentous human cystathionine beta-synthase

Nature communications, 2024-04, Vol.15 (1), p.2931-2931, Article 2931

2024

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Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Human molecular genetics, 2016-06, Vol.25 (11), p.2234-2244

2016

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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

Human molecular genetics, 2015-10, Vol.24 (20), p.5667-5676

2015

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Galactosemia: Towards Pharmacological Chaperones

Journal of personalized medicine, 2021-02, Vol.11 (2), p.106

2021

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

IUCrJ, 2020-07, Vol.7 (Pt 4), p.693-706

2020

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The complex machinery of human cobalamin metabolism

Journal of inherited metabolic disease, 2023-05, Vol.46 (3), p.406-420

2023

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Obituary for Professor David Julian Timson, PhD

Journal of inherited metabolic disease, 2022-11, Vol.45 (6), p.1205-1205

2022

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Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain

Scientific reports, 2016-04, Vol.6 (1), p.23748-23748, Article 23748

2016

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Isomerization of BRCA1-BARD1 promotes replication fork protection

Nature (London), 2019-07, Vol.571 (7766), p.521-527

2019

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Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate

Nature structural & molecular biology, 2022-07, Vol.29 (7), p.628-638

2022

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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1190-1194

2023

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The Molecular Dynamics of Trypanosoma brucei UDP-Galactose 4′-Epimerase: A Drug Target for African Sleeping Sickness

Chemical biology & drug design, 2012-08, Vol.80 (2), p.173-181

2012

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Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation

The Journal of biological chemistry, 2014-12, Vol.289 (52), p.36018

2014

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Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking

The Journal of biological chemistry, 2015-12, Vol.290 (49), p.29167-29177

2015

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In silico prediction of the effects of mutations in the human UDP-galactose 4′-epimerase gene: Towards a predictive framework for type III galactosemia

Gene, 2013-07, Vol.524 (2), p.95-104

2013

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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia

Biochimica et biophysica acta, 2013-08, Vol.1832 (8), p.1279-1293

2013

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Structural and molecular biology of type I galactosemia: Disease‐associated mutations

IUBMB life, 2011-11, Vol.63 (11), p.949-954

2011

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Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birth

RSC advances, 2016-01, Vol.6 (21), p.17297-17301

2016

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The structural and molecular biology of type I galactosemia: Enzymology of galactose 1‐phosphate uridylyltransferase

IUBMB life, 2011-09, Vol.63 (9), p.694-700

2011

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Altered cofactor binding affects stability and activity of human UDP-galactose 4′-epimerase: Implications for type III galactosemia

Biochimica et biophysica acta, 2012-10, Vol.1822 (10), p.1516-1526

2012

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In vivo and in vitro function of human UDP-galactose 4′-epimerase variants

Biochimie, 2011-10, Vol.93 (10), p.1747-1754

2011

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Inter-domain Communication of Human Cystathionine β-Synthase

The Journal of biological chemistry, 2014-12, Vol.289 (52), p.36018-36030

2014

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Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birthElectronic supplementary information (ESI) available. See DOI: 10.1039/c6ra00306k

2016-02

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Structural basis of homologous recombination

Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase

Architecture and regulation of filamentous human cystathionine beta-synthase

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

Galactosemia: Towards Pharmacological Chaperones

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

The complex machinery of human cobalamin metabolism

Obituary for Professor David Julian Timson, PhD

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain

Isomerization of BRCA1-BARD1 promotes replication fork protection

Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

The Molecular Dynamics of Trypanosoma brucei UDP-Galactose 4′-Epimerase: A Drug Target for African Sleeping Sickness

Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking

In silico prediction of the effects of mutations in the human UDP-galactose 4′-epimerase gene: Towards a predictive framework for type III galactosemia

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia

Structural and molecular biology of type I galactosemia: Disease‐associated mutations

Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birth

The structural and molecular biology of type I galactosemia: Enzymology of galactose 1‐phosphate uridylyltransferase

Altered cofactor binding affects stability and activity of human UDP-galactose 4′-epimerase: Implications for type III galactosemia

In vivo and in vitro function of human UDP-galactose 4′-epimerase variants

Inter-domain Communication of Human Cystathionine β-Synthase

Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birthElectronic supplementary information (ESI) available. See DOI: 10.1039/c6ra00306k

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