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

Biochimie, 2021-04, Vol.183, p.1-2

Yue, Wyatt W.

2021

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

Nature communications, 2019-05, Vol.10 (1), p.2210-2210, Article 2210

2019

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From structural biology to designing therapy for inborn errors of metabolism

Journal of inherited metabolic disease, 2016-07, Vol.39 (4), p.489-498

Yue, Wyatt W.

2016

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Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

Nature communications, 2018-06, Vol.9 (1), p.2261-13, Article 2261

2018

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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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Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S]

Molecular & cellular proteomics, 2015-11, Vol.14 (11), p.3056-3071

2015

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Snapshots of actin and tubulin folding inside the TRiC chaperonin

Nature structural & molecular biology, 2022-05, Vol.29 (5), p.420

2022

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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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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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Structural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase Family

The Journal of biological chemistry, 2011-12, Vol.286 (48), p.41616-41625

2011

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NDP52 acts as a redox sensor in PINK1/Parkin‐mediated mitophagy

The EMBO journal, 2023-03, Vol.42 (5), p.e111372-n/a

2023

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

Biochimie, 2021-04, Vol.183, p.35-43

2021

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

Nature communications, 2020-06, Vol.11 (1), p.2813-12, Article 2813

2020

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

American journal of human genetics, 2017-09, Vol.101 (3), p.466-477

2017

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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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Crystal structure of Porphyromonas gingivalis peptidylarginine deiminase: implications for autoimmunity in rheumatoid arthritis

Annals of the rheumatic diseases, 2016-06, Vol.75 (6), p.1255-1261

2016

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Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.302-309

2015

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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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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Brain (London, England : 1878), 2015-09, Vol.138 (Pt 9), p.2493-2504

2015

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

Virology (New York, N.Y.), 2021-10, Vol.562, p.128-141

2021

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

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.565-574

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

2022

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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

Biochimica et biophysica acta. Molecular basis of disease, 2017-12, Vol.1863 (12), p.3294-3302

2017

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Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis

Nature (London), 2018-11, Vol.563 (7730), p.235-240

2018

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Protein destabilization and loss of protein‐protein interaction are fundamental mechanisms in cblA‐type methylmalonic aciduria

Human mutation, 2017-08, Vol.38 (8), p.988-1001

2017

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

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

From structural biology to designing therapy for inborn errors of metabolism

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

The complex machinery of human cobalamin metabolism

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S]

Snapshots of actin and tubulin folding inside the TRiC chaperonin

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

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

Structural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase Family

NDP52 acts as a redox sensor in PINK1/Parkin‐mediated mitophagy

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

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

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

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

Crystal structure of Porphyromonas gingivalis peptidylarginine deiminase: implications for autoimmunity in rheumatoid arthritis

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

Architecture and regulation of filamentous human cystathionine beta-synthase

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

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

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

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

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis

Protein destabilization and loss of protein‐protein interaction are fundamental mechanisms in cblA‐type methylmalonic aciduria

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