Lista de obras - T.R. Caulfield - Dominio Público Uruguay

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

artículo científico publicado en 2015

A Virtual Screening Platform Identifies Chloroethylagelastatin A as a Potential Ribosomal Inhibitor

scientific article published on 05 October 2020

Activation of the E3 ubiquitin ligase Parkin.

artículo científico publicado en 2015

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies

scientific article published on 31 July 2019

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

scientific article published on 25 January 2020

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

artículo científico publicado en 2020

FAM111A protects replication forks from protein obstacles via its trypsin-like domain

scientific article published on 12 March 2020

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

scientific article published on 15 May 2019

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

scientific article published on 17 September 2020

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

artículo científico publicado en 2016

In Silico Investigation of Parkin-Activating Mutations Using Simulations and Network Modeling

artículo científico publicado en 2024

Inhibition of Prohormone Convertases PC1/3 and PC2 by 2,5-Dideoxystreptamine Derivatives ⬇️

artículo científico publicado el 14 de diciembre de 2011

Inter-ring rotation of apolipoprotein A-I protein monomers for the double-belt model using biased molecular dynamics ⬇️

artículo científico publicado el 27 de abril de 2011

Molecular Dynamics Simulations Suggest a Non-Doublet Decoding Model of -1 Frameshifting by tRNASer3

artículo científico publicado en 2019

Motion of transfer RNA from the A/T state into the A‐site using docking and simulations ⬇️

artículo científico publicado el 28 de julio de 2012

Nanaomycin A Selectively Inhibits DNMT3B and Reactivates Silenced Tumor Suppressor Genes in Human Cancer Cells ⬇️

artículo científico publicado el 10 de septiembre de 2010

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

artículo científico publicado en 2016

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

scientific article published on 24 July 2018

Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin

artículo científico publicado en 2014

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

artículo científico publicado en 2019

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

artículo científico publicado en 2018

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

artículo científico publicado en 2018

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

artículo científico publicado en 2017

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

scientific article published on 12 September 2020

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

artículo científico publicado en 2015

TRIO gene segregation in a family with cerebellar ataxia

article

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

artículo científico publicado en 2018

Lista de obras de T.R. Caulfield

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

A Virtual Screening Platform Identifies Chloroethylagelastatin A as a Potential Ribosomal Inhibitor

Activation of the E3 ubiquitin ligase Parkin.

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

FAM111A protects replication forks from protein obstacles via its trypsin-like domain

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

In Silico Investigation of Parkin-Activating Mutations Using Simulations and Network Modeling

Inhibition of Prohormone Convertases PC1/3 and PC2 by 2,5-Dideoxystreptamine Derivatives ⬇️

Inter-ring rotation of apolipoprotein A-I protein monomers for the double-belt model using biased molecular dynamics ⬇️

Molecular Dynamics Simulations Suggest a Non-Doublet Decoding Model of -1 Frameshifting by tRNASer3

Motion of transfer RNA from the A/T state into the A‐site using docking and simulations ⬇️

Nanaomycin A Selectively Inhibits DNMT3B and Reactivates Silenced Tumor Suppressor Genes in Human Cancer Cells ⬇️

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

TRIO gene segregation in a family with cerebellar ataxia

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.