A5074127156- Mitochondrial Function and Pathology
- Metabolism, Diabetes, and Cancer
- Genetic Neurodegenerative Diseases
- Retinal and Macular Surgery
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- ATP Synthase and ATPases Research
- Retinal Development and Disorders
- Endoplasmic Reticulum Stress and Disease
- CRISPR and Genetic Engineering
- interferon and immune responses
- Autophagy in Disease and Therapy
- Nitric Oxide and Endothelin Effects
- Pluripotent Stem Cells Research
- Advanced Fluorescence Microscopy Techniques
- Glaucoma and retinal disorders
- Systemic Lupus Erythematosus Research
- DNA Repair Mechanisms
- Immune Response and Inflammation
- Laser Applications in Dentistry and Medicine
- Ubiquitin and proteasome pathways
- Muscle Physiology and Disorders
University of Miami
2009-2024
The ATPase Family AAA Domain Containing 3A (ATAD3A), is a mitochondrial inner membrane protein conserved in metazoans. ATAD3A has been associated with several functions, including nucleoid organization, cholesterol metabolism, and translation. To address its primary role, we generated neuronal-specific conditional knockout (Atad3 nKO) mouse model, which developed severe encephalopathy by 5 months of age. Pre-symptomatic mice showed aberrant cristae morphogenesis the cortex as early 2 months....
Report16 July 2018Open Access Source DataTransparent process mitoTev-TALE: a monomeric DNA editing enzyme to reduce mutant mitochondrial levels Claudia V Pereira Department of Neurology, University Miami Miller School Medicine, Miami, FL, USA Search for more papers by this author Sandra R Bacman Tania Arguello Ugne Zekonyte Sion L Williams David Edgell Biochemistry, Schulich Medicine and Dentistry, Western Ontario, London, ON, Canada Carlos T Moraes Corresponding Author [email protected]...
To evaluate the efficiency and safety of AAV-mediated gene delivery a normal human ND4 complex I subunit in mouse visual system.A nuclear encoded fused to ATPc mitochondrial targeting sequence FLAG epitope were packaged AAV2 capsids that injected into right eyes mice. AAV-GFP was left eyes. One month later, pattern electroretinography (PERG), rate ATP synthesis, expression, incorporation murine evaluated. Quantitative analysis ND4FLAG-injected assessed compared with green fluorescent protein...
Article9 January 2020Open Access Transparent process Myopathy reversion in mice after restauration of mitochondrial complex I Claudia V Pereira Department Neurology, University Miami Miller School Medicine, Miami, FL, USA Search for more papers by this author Susana Peralta Tania Arguello Sandra R Bacman Francisca Diaz Carlos T Moraes Corresponding Author [email protected] orcid.org/0000-0002-8077-7092 Cell Biology, Information Pereira1,‡, Peralta1,‡, Arguello1, Bacman1, Diaz1 and *,1,2...
Acute pharmacological activation of adenosine monophosphate (AMP)-kinase using 5-aminoimidazole-4-carboxamide-1-b-D-ribofuranoside (AICAR) has been shown to improve muscle mitochondrial function by increasing biogenesis. We asked whether prolonged AICAR treatment is beneficial in a mouse model slowly progressing myopathy (Cox10-Mef2c-Cre), and the compensatory mechanism indeed an increase treated animals for 3 months found that sustained AMP-dependent kinase improved cytochrome c oxidase...
N-Formylation of the Met-tRNAMet by nuclearly encoded mitochondrial methionyl-tRNA formyltransferase (MTFMT) has been found to be a key determinant protein synthesis initiation in mitochondria. In humans, mutations MTFMT gene result Leigh syndrome, progressive and severe neurometabolic disorder. However, absolute requirement formylation for mammalian mitochondria is still debated. Here, we generated Mtfmt-KO mouse fibroblast cell line demonstrated that N-formylation first methionine via...
Complex I (also known as NADH-ubiquinone oxidoreductase) deficiency is the most frequent mitochondrial disorder present in childhood. oxidoreductase iron-sulfur protein 3 (NDUFS3) a catalytic subunit of complex I; NDUFS3 conserved from bacteria and essential for function. Mutations affecting I, including Ndufs3 gene, cause fatal neurodegenerative diseases, such Leigh syndrome. No treatment available these conditions. We developed performed detailed molecular characterization neuron-specific...
Gold quantum clusters are therapeutic in preclinical models of Friedreich ataxia.
NEK10, a serine/threonine/tyrosine kinase belonging to the NEK (NIMA-related kinases) family, has been associated with diverse cellular processes. However, no specific target pathways have identified. Our previous work knocking down NEK10 in HeLa cells suggested functional association mitochondria, as we observed altered mitochondrial morphology, oxygen consumption, mtDNA integrity, and reactive species levels.
To phenotypically and genotypically characterize a large Puerto Rican kindred with X-linked retinitis pigmentosa associated novel RP GTPase regulator (RPGR) genotype.A total of 100 family members single were evaluated ophthalmic examinations blood DNA analysis. Visual fields, OCT, full-field ERG obtained on all affected males carriers.Of the examined, 13 18 carriers. A deletion 2 base pair RPGR gene in ORF15 region at position c.2267-2268 (Lys756del2aaAG hemi) was identified Best eye visual...