Cargando…

Evolutionary Divergent Suppressor Mutations in Conformational Diseases

Neutral and adaptive mutations are key players in the evolutionary dynamics of proteins at molecular, cellular and organismal levels. Conversely, largely destabilizing mutations are rarely tolerated by evolution, although their occurrence in diverse human populations has important roles in the patho...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mesa-Torres, Noel, Betancor-Fernández, Isabel, Oppici, Elisa, Cellini, Barbara, Salido, Eduardo, Pey, Angel L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071075/ https://www.ncbi.nlm.nih.gov/pubmed/30011855 http://dx.doi.org/10.3390/genes9070352

Ejemplares similares

Molecular Recognition of PTS-1 Cargo Proteins by Pex5p: Implications for Protein Mistargeting in Primary Hyperoxaluria
por: Mesa-Torres, Noel, et al.
Publicado: (2015)

Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants
por: Neira, Jose L., et al.
Publicado: (2022)

Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands
por: Medina-Carmona, Encarnación, et al.
Publicado: (2016)

Erratum: Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands
por: Medina-Carmona, Encarnación, et al.
Publicado: (2016)

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I
por: Mesa-Torres, Noel, et al.
Publicado: (2013)

Biochemical and Computational Approaches to Improve the Clinical Treatment of Dopa Decarboxylase-Related Diseases: An Overview
por: Cellini, Barbara, et al.
Publicado: (2012)

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I()
por: Oppici, Elisa, et al.
Publicado: (2012)

Targeting HIF-1α Function in Cancer through the Chaperone Action of NQO1: Implications of Genetic Diversity of NQO1
por: Salido, Eduardo, et al.
Publicado: (2022)

Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue
por: Pacheco-Garcia, Juan Luis, et al.
Publicado: (2021)

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation
por: Montioli, Riccardo, et al.
Publicado: (2014)

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein
por: Pacheco-García, Juan Luis, et al.
Publicado: (2020)

Interaction of Human Dopa Decarboxylase with L-Dopa: Spectroscopic and Kinetic Studies as a Function of pH
por: Montioli, Riccardo, et al.
Publicado: (2013)

Biochemical properties and oxalate‐degrading activity of oxalate decarboxylase from bacillus subtilis at neutral pH
por: Conter, Carolina, et al.
Publicado: (2019)

Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting
por: Dindo, Mirco, et al.
Publicado: (2021)

Evolutionary divergence in the conformational landscapes of tyrosine vs serine/threonine kinases
por: Gizzio, Joan, et al.
Publicado: (2022)

Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I
por: Pey, Angel L., et al.
Publicado: (2013)

Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications
por: Oppici, Elisa, et al.
Publicado: (2013)

Effect of naturally-occurring mutations on the stability and function of cancer-associated NQO1: Comparison of experiments and computation
por: Pacheco-Garcia, Juan Luis, et al.
Publicado: (2022)

Conformational Heterogeneity and Frustration of the Tumor Suppressor p53 as Tuned by Punctual Mutations
por: Bizzarri, Anna Rita
Publicado: (2022)

A Dynamic Core in Human NQO1 Controls the Functional and Stability Effects of Ligand Binding and Their Communication across the Enzyme Dimer
por: Vankova, Pavla, et al.
Publicado: (2019)

Evolutionary Conserved Positions Define Protein Conformational Diversity
por: Saldaño, Tadeo E., et al.
Publicado: (2016)

Allosteric Communication in the Multifunctional and Redox NQO1 Protein Studied by Cavity-Making Mutations
por: Pacheco-Garcia, Juan Luis, et al.
Publicado: (2022)

Structural and evolutionary divergence of aquaporins in parasites
por: Ni, Zi-Xin, et al.
Publicado: (2017)

Evolutionary divergence of Firre localization and expression
por: Much, Christian, et al.
Publicado: (2022)

Evolutionary divergence of embryo implantation in primates
por: Siriwardena, Dylan, et al.
Publicado: (2022)

CNL Disease Resistance Genes in Soybean and Their Evolutionary Divergence
por: Nepal, Madhav P, et al.
Publicado: (2015)

Rethinking conformity and imitation: divergence, convergence, and social understanding
por: Hodges, Bert H.
Publicado: (2014)

Divergent evolution of protein conformational dynamics in dihydrofolate reductase
por: Bhabha, Gira, et al.
Publicado: (2013)

The human sirtuin family: Evolutionary divergences and functions
por: Vassilopoulos, Athanassios, et al.
Publicado: (2011)

Evolutionary divergence of chloroplast FAD synthetase proteins
por: Yruela, Inmaculada, et al.
Publicado: (2010)

Functional Divergence and Evolutionary Turnover in Mammalian Phosphoproteomes
por: Freschi, Luca, et al.
Publicado: (2014)

Evolutionary divergence of 3’ UTRs in cichlid fishes
por: Xiong, Peiwen, et al.
Publicado: (2018)

Evolutionary Divergence of Duplicated Hsf Genes in Populus
por: Liu, Bobin, et al.
Publicado: (2019)

Evolutionary conservation and divergence of the human brain transcriptome
por: Pembroke, William G., et al.
Publicado: (2021)

Evolutionary history of histone demethylase families: distinct evolutionary patterns suggest functional divergence
por: Zhou, Xiaofan, et al.
Publicado: (2008)

Inferring regulatory mechanisms from patterns of evolutionary divergence
por: Tirosh, Itay, et al.
Publicado: (2011)

Structural and evolutionary divergence of eukaryotic protein kinases in Apicomplexa
por: Talevich, Eric, et al.
Publicado: (2011)

Genetic constraints predict evolutionary divergence in Dalechampia blossoms
por: Bolstad, Geir H., et al.
Publicado: (2014)

Divergent evolutionary processes associated with colonization of offshore islands
por: Martínková, Natália, et al.
Publicado: (2013)

Evidence of Adaptive Evolutionary Divergence during Biological Invasion
por: Lucek, Kay, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_rak1kb0qcsds1n0qa8vgfjt95b