Jesse Slone
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View article: 12203 FDXR Variants Cause Adrenal Insufficiency And Atypical Sexual Development
12203 FDXR Variants Cause Adrenal Insufficiency And Atypical Sexual Development Open
Disclosure: E. Pignatti: None. J. Slone: None. M. Gomez-Cano: None. T.M. Campbell: None. J. Vu: None. K. Sauter: None. A.V. Pandey: None. M. Alonso-Riaño: None. F. Martínez-Azorín: None. D. Neilson: None. N. Longo: None. T. Du Toit: None. …
View article: FDXR Variants Cause Adrenal Insufficiency and Atypical Sexual Development
FDXR Variants Cause Adrenal Insufficiency and Atypical Sexual Development Open
View article: Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population Open
Purpose: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the mitochondria. Not surprisingly, loss of FDXR function causes severe mitochondrial disease…
View article: <b>Dissecting the roles of the nuclear and mitochondrial genomes in a mouse model of autoimmune diabetes</b>
<b>Dissecting the roles of the nuclear and mitochondrial genomes in a mouse model of autoimmune diabetes</b> Open
AbstractMitochondria, the organelles responsible for generating ATP in eukaryotic cells, have been previously implicated as a contributor to diabetes. However, mitochondrial proteins are encoded by both nuclear DNA (nDNA) and mitoch…
View article: <b>Dissecting the roles of the nuclear and mitochondrial genomes in a mouse model of autoimmune diabetes</b>
<b>Dissecting the roles of the nuclear and mitochondrial genomes in a mouse model of autoimmune diabetes</b> Open
AbstractMitochondria, the organelles responsible for generating ATP in eukaryotic cells, have been previously implicated as a contributor to diabetes. However, mitochondrial proteins are encoded by both nuclear DNA (nDNA) and mitoch…
View article: Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy
Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy Open
Mitochondria are small double-membraned organelles responsible for the generation of energy used in the body in the form of ATP. Mitochondria are unique in that they contain their own circular mitochondrial genome termed mtDNA. mtDNA codes…
View article: PINK1-mediated Drp1S616 phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission
PINK1-mediated Drp1S616 phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission Open
View article: Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth Open
Preterm birth (PTB), or birth that occurs earlier than 37 weeks of gestational age, is a major contributor to infant mortality and neonatal hospitalization. Mutations in the mitochondrial genome (mtDNA) have been linked to various rare mit…
View article: Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases Open
SLC25A46 mutations have been found to lead to mitochondrial hyper-fusion and reduced mitochondrial respiratory function, which results in optic atrophy, cerebellar atrophy, and other clinical symptoms of mitochondrial disease. However, it …
View article: Nanoscopic Quantification of Sub-mitochondrial Morphology, Mitophagy and Mitochondrial Dynamics in Patients With Mitochondrial Disease
Nanoscopic Quantification of Sub-mitochondrial Morphology, Mitophagy and Mitochondrial Dynamics in Patients With Mitochondrial Disease Open
SLC25A46 mutations have been found to lead to mitochondrial hyper-fusion and reduced mitochondrial respiratory function, which results in optic atrophy, cerebellar atrophy, and other clinical symptoms of mitochondrial disease. However, it …
View article: Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice
Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice Open
Gene therapy now provides a novel approach for treating inherited monogenetic disorders, including nuclear gene mutations associated with mitochondrial diseases. In this study, we have utilized a mouse model carrying a p.Arg389Gln mutation…
View article: The special considerations of gene therapy for mitochondrial diseases
The special considerations of gene therapy for mitochondrial diseases Open
The recent success of gene therapy across multiple clinical trials has inspired a great deal of hope regarding the treatment of previously intractable genetic diseases. This optimism has been extended to the prospect of gene therapy for mi…
View article: No evidence for intermolecular recombination in human fibroblast and blood mtDNA from individuals with biparental mtDNA transmission
No evidence for intermolecular recombination in human fibroblast and blood mtDNA from individuals with biparental mtDNA transmission Open
Strictly maternal inheritance and lack of intermolecular recombination of the human mitochondrial genome (mtDNA) are the assumed preconditions for molecular evolution studies, phylogenetic reconstruction and population genetic analyses. Th…
View article: Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA
Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA Open
With very few exceptions, mitochondrial DNA (mtDNA) in humans is transmitted exclusively from mothers to their offspring, suggesting the presence of a strong evolutionary pressure favoring the exclusion of paternal mtDNA. We have recently …
View article: Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?
Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA? Open
In response to our report of biparental mtDNA inheritance (1), Annis et al. have conducted their own evaluation of our results (2). They disagreed with the autosomal dominant-like inheritance model we proposed as well as the idea of NUMT c…
View article: Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations
Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations Open
The mitochondrion is the only organelle in the human cell, besides the nucleus, with its own DNA (mtDNA). Since the mitochondrion is critical to the energy metabolism of the eukaryotic cell, it should be unsurprising, then, that a primary …
View article: Neurodegenerative Diseases Associated with Mutations in <i>SLC25A46</i>
Neurodegenerative Diseases Associated with Mutations in <i>SLC25A46</i> Open
Neurodegenerative diseases present substantial clinical challenges. Their processes have been linked with various genetic causes, including mutations of genes encoding proteins associated with mitochondrial dynamics. Biallelic mutations in…
View article: Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments Open
In Luo et al. (1), we report the transmission of paternal mtDNA in 17 individuals across three unrelated families. In their letter responding to this paper, Lutz-Bonengel et al. (2) argue that these results do not provide sufficient eviden…
View article: Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?
Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders? Open
Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and enviro…
View article: Specialized odorant receptors in social insects that detect cuticular hydrocarbon cues and candidate pheromones
Specialized odorant receptors in social insects that detect cuticular hydrocarbon cues and candidate pheromones Open
Eusocial insects use cuticular hydrocarbons as components of pheromones that mediate social behaviours, such as caste and nestmate recognition, and regulation of reproduction. In ants such as Harpegnathos saltator , the queen produces a ph…
View article: Olfactory receptors are required for social behavior and neural plasticity in ants, as evidenced by CRISPR-mediated gene knockout
Olfactory receptors are required for social behavior and neural plasticity in ants, as evidenced by CRISPR-mediated gene knockout Open
The chemosensory system is key to establishing and maintaining social structure in eusocial insects. Ants exhibit cooperative colonial behaviors reflective of an advanced form of sociality with an extensive dependency on communication. Cut…
View article: Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases
Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases Open
Our latest breakthrough involves the successful application of mitochondrial replacement therapy (MRT) and has attracted worldwide attention [1]. This has also raised a considerable debate regarding the safety of mitochondrial replacement …
View article: Correction: Corrigendum: Determining crystal structures through crowdsourcing and coursework
Correction: Corrigendum: Determining crystal structures through crowdsourcing and coursework Open
View article: Determining crystal structures through crowdsourcing and coursework
Determining crystal structures through crowdsourcing and coursework Open
View article: Drosophila Sugar Receptors in Sweet Taste Perception, Olfaction, and Internal Nutrient Sensing
Drosophila Sugar Receptors in Sweet Taste Perception, Olfaction, and Internal Nutrient Sensing Open