Aurelio Reyes
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View article: Spatial distribution pattern of the endangered endemic cycad <i>Ceratozamia fuscoviridis</i> (Zamiaceae) in central Mexico
Spatial distribution pattern of the endangered endemic cycad <i>Ceratozamia fuscoviridis</i> (Zamiaceae) in central Mexico Open
Spatial distribution pattern was studied for Ceratozamia fuscoviridis , an endangered species in Mexico. The conservation importance of this species lies in the fact that it is endemic to a relatively small geographic area in which changes…
View article: Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'. Open
View article: Correction to ‘DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion’
Correction to ‘DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion’ Open
This is a correction to: Nucleic Acids Research, Volume 49, Issue 9, 21 May 2021, Pages 5230–5248, https://doi.org/10.1093/nar/gkab282
View article: DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Open
Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understo…
View article: DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion Open
Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understo…
View article: Mammalian Mitochondrial DNA Replication Intermediates Are Essentially Duplex but Contain Extensive Tracts of RNA/DNA Hybrid
Mammalian Mitochondrial DNA Replication Intermediates Are Essentially Duplex but Contain Extensive Tracts of RNA/DNA Hybrid Open
We demonstrate, using transmission electron microscopy and immunopurification with an antibody specific for RNA/DNA hybrid, that intact mtDNA replication intermediates (mtRIs) are essentially duplex throughout their length, but contain ext…
View article: <i>In vivo</i>and<i>in vitro</i>mechanistic characterization of a clinically relevant PolγA mutation
<i>In vivo</i>and<i>in vitro</i>mechanistic characterization of a clinically relevant PolγA mutation Open
Mutations in POLG , encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG -related diseases is poorly unders…
View article: RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases Open
Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L …
View article: RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA
RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA Open
RNase H1 is able to recognize DNA/RNA heteroduplexes and to degrade their RNA component. As a consequence, it has been implicated in different aspects of mtDNA replication such as primer formation, primer removal, and replication terminati…
View article: Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement Open
View article: RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria Open
Human mitochondrial DNA (mtDNA) replication is first initiated at the origin of H-strand replication. The initiation depends on RNA primers generated by transcription from an upstream promoter (LSP). Here we reconstitute this process in vi…
View article: Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication
Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication Open
Mammalian mitochondria operate multiple mechanisms of DNA replication. In many cells and tissues a strand-asynchronous mechanism predominates over coupled leading and lagging-strand DNA synthesis. However, little is known of the factors th…
View article: Mutations in <i>TIMM50</i> compromise cell survival in OxPhos‐dependent metabolic conditions
Mutations in <i>TIMM50</i> compromise cell survival in OxPhos‐dependent metabolic conditions Open
View article: A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL Open
The role of Ribonuclease H1 (RNase H1) during primer removal and ligation at the mitochondrial origin of light-strand DNA synthesis (OriL) is a key, yet poorly understood, step in mitochondrial DNA maintenance. Here, we reconstitute the re…
View article: Mitochondrial maintenance under oxidative stress depends on mitochondrially localised α-OGG1
Mitochondrial maintenance under oxidative stress depends on mitochondrially localised α-OGG1 Open
Accumulation of 8-oxoguanine (8-oxoG) in mitochondrial DNA and mitochondrial dysfunction have been observed in cells deficient for the DNA glycosylase OGG1 when exposed to oxidative stress. In human cells, up to eight mRNAs for OGG1 can be…
View article: Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis Open
View article: The role of mitochondria-targeted antioxidant MitoQ in neurodegenerative disease
The role of mitochondria-targeted antioxidant MitoQ in neurodegenerative disease Open
The discovery of charged molecules being able to cross the mitochondrial membrane has prompted many scholars to exploit this idea to find a way of preventing or slowing down aging. In this paper, we will focus on mitochondria-targeted anti…
View article: The Role of DNA Repair in Maintaining Mitochondrial DNA Stability
The Role of DNA Repair in Maintaining Mitochondrial DNA Stability Open
View article: <i>COA7</i> (<i>C1orf163</i> <i>/RESA1</i>) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
<i>COA7</i> (<i>C1orf163</i> <i>/RESA1</i>) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency Open
Background Assembly of cytochrome c oxidase (COX, complex IV, cIV), the terminal component of the mitochondrial respiratory chain, is assisted by several factors, most of which are conserved from yeast to humans. However, some of them, inc…
View article: New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies Open
View article: Defective <scp>PITRM</scp> 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
Defective <span>PITRM</span> 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration Open
View article: Correction: Corrigendum: Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure
Correction: Corrigendum: Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure Open
View article: Analysis of Replicating Mitochondrial DNA by In Organello Labeling and Two-Dimensional Agarose Gel Electrophoresis
Analysis of Replicating Mitochondrial DNA by In Organello Labeling and Two-Dimensional Agarose Gel Electrophoresis Open
View article: Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure
Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure Open
View article: RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy Open