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Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13032

2023

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Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L

International journal of molecular sciences, 2024-03, Vol.25 (6), p.3373

2024

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In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles

International journal of molecular sciences, 2022-12, Vol.24 (1), p.639

2022

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Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants

International journal of molecular sciences, 2022-02, Vol.23 (3), p.1305

2022

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Global computational mutagenesis provides a critical stability framework in protein structures

PloS one, 2017-12, Vol.12 (12), p.e0189064

2017

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Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10203

2021

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

American journal of human genetics, 2016-12, Vol.99 (6), p.1388-1394

2016

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Tyrosinase Nanoparticles: Understanding the Melanogenesis Pathway by Isolating the Products of Tyrosinase Enzymatic Reaction

International journal of molecular sciences, 2021-01, Vol.22 (2), p.734

2021

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Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase

International journal of molecular sciences, 2021-08, Vol.22 (15), p.7771

2021

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Correction: Global computational mutagenesis provides a critical stability framework in protein structures

PloS one, 2018-01, Vol.13 (1), p.e0191881

2018

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Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein

PloS one, 2018-06, Vol.13 (6), p.e0198247-e0198247

2018

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Human Tyrosinase: Temperature-Dependent Kinetics of Oxidase Activity

International journal of molecular sciences, 2020-01, Vol.21 (3), p.895

2020

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Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1

International journal of molecular sciences, 2020-01, Vol.21 (1), p.331

2020

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Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity

PloS one, 2014-01, Vol.9 (1), p.e84494-e84494

2014

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REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

Human molecular genetics, 2017-06, Vol.26 (12), p.2218-2230

2017

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Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

PloS one, 2009-12, Vol.4 (12), p.e8402-e8402

2009

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Novel computer program for fast exact calculation of accessible and molecular surface areas and average surface curvature

Journal of computational chemistry, 2002-04, Vol.23 (6), p.600-609

2002

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AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

Communications biology, 2021-12, Vol.4 (1), p.1360-1360, Article 1360

2021

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Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies

Genes, 2022-05, Vol.13 (5), p.925

2022

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Interleukin-35 induces regulatory B cells that suppress autoimmune disease

Nature medicine, 2014-06, Vol.20 (6), p.633-641

2014

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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

Journal of medical genetics, 2017-06, Vol.54 (6), p.404-412

2017

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Functional validation of hydrophobic adaptation to physiological temperature in the small heat shock protein αA-crystallin

PloS one, 2012-03, Vol.7 (3), p.e34438

2012

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In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3‐related mutant variants

Protein science, 2023-01, Vol.32 (1), p.e4518-n/a

2023

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Global computational mutagenesis of domain structures associated with inherited eye disease

Scientific reports, 2019-03, Vol.9 (1), p.3676-3676, Article 3676

2019

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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B

American journal of human genetics, 2023-07, Vol.110 (7), p.1123-1137

2023

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Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation

Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L

In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles

Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants

Global computational mutagenesis provides a critical stability framework in protein structures

Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Tyrosinase Nanoparticles: Understanding the Melanogenesis Pathway by Isolating the Products of Tyrosinase Enzymatic Reaction

Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase

Correction: Global computational mutagenesis provides a critical stability framework in protein structures

Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein

Human Tyrosinase: Temperature-Dependent Kinetics of Oxidase Activity

Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1

Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

Novel computer program for fast exact calculation of accessible and molecular surface areas and average surface curvature

AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies

Interleukin-35 induces regulatory B cells that suppress autoimmune disease

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

Functional validation of hydrophobic adaptation to physiological temperature in the small heat shock protein αA-crystallin

In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3‐related mutant variants

Global computational mutagenesis of domain structures associated with inherited eye disease

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B

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