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  1. Article: Justice for Our Genes: The Case for Genetic Non-discrimination Regulations in the New Zealand Life Insurance Industry.

    Buckenham Boyle, Emily

    Journal of law and medicine

    2022  Volume 29, Issue 3, Page(s) 760–782

    Abstract: While most comparable jurisdictions have adopted more restrictive positions, life insurers in New Zealand remain permitted to request the disclosure of predictive genetic test results from applicants, driving up the cost to obtain life insurance for ... ...

    Abstract While most comparable jurisdictions have adopted more restrictive positions, life insurers in New Zealand remain permitted to request the disclosure of predictive genetic test results from applicants, driving up the cost to obtain life insurance for those with known susceptibilities to genetic disease. The permissive approach is now an outlier, and risks disincentivising health care and research innovation, facilitating irrational discrimination, and compounding existing health inequities. This article examines the New Zealand position through a consequentialist lens. It analyses justifications for the status quo, as well as international approaches, before concluding that genetic non-discrimination regulations governing New Zealand's life insurance industry should be introduced to enhance public wellbeing.
    MeSH term(s) Disclosure ; Genetic Testing ; Insurance, Life ; New Zealand ; Social Justice
    Language English
    Publishing date 2022-08-15
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 1236328-5
    ISSN 1320-159X
    ISSN 1320-159X
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  2. Article ; Online: Creating an Escape Room for Continuous Renal Replacement Therapy Validation.

    Przybyl, Heather / Boyle, Emily

    Critical care nurse

    2023  Volume 43, Issue 3, Page(s) 68–71

    MeSH term(s) Humans ; Continuous Renal Replacement Therapy ; Retrospective Studies ; Acute Kidney Injury/therapy
    Language English
    Publishing date 2023-05-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632663-8
    ISSN 1940-8250 ; 0279-5442
    ISSN (online) 1940-8250
    ISSN 0279-5442
    DOI 10.4037/ccn2023243
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  3. Article ; Online: Autophagy as a caretaker of nuclear integrity.

    Boyle, Emily / Wilfling, Florian

    FEBS letters

    2023  Volume 597, Issue 22, Page(s) 2728–2738

    Abstract: Due to their essential functions, dysregulation of nuclear pore complexes (NPCs) is strongly associated with numerous human diseases, including neurodegeneration and cancer. On a cellular level, longevity of scaffold nucleoporins in postmitotic cells of ... ...

    Abstract Due to their essential functions, dysregulation of nuclear pore complexes (NPCs) is strongly associated with numerous human diseases, including neurodegeneration and cancer. On a cellular level, longevity of scaffold nucleoporins in postmitotic cells of both C. elegans and mammals renders them vulnerable to age-related damage, which is associated with an increase in pore leakiness and accumulation of intranuclear aggregates in rat brain cells. Thus, understanding the mechanisms which underpin the homeostasis of this complex, as well as other nuclear proteins, is essential. In this review, autophagy-mediated degradation pathways governing nuclear components in yeast will be discussed, with a particular focus on NPCs. Furthermore, the various nuclear degradation mechanisms identified thus far in diverse eukaryotes will also be highlighted.
    MeSH term(s) Rats ; Humans ; Animals ; Caenorhabditis elegans/metabolism ; Nuclear Pore/metabolism ; Nuclear Pore Complex Proteins/metabolism ; Cell Nucleus/metabolism ; Saccharomyces cerevisiae/metabolism ; Autophagy ; Mammals/metabolism
    Chemical Substances Nuclear Pore Complex Proteins
    Language English
    Publishing date 2023-08-20
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 212746-5
    ISSN 1873-3468 ; 0014-5793
    ISSN (online) 1873-3468
    ISSN 0014-5793
    DOI 10.1002/1873-3468.14719
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  4. Article ; Online: Autophagy as a caretaker of nuclear integrity

    Boyle, Emily / Wilfling, Florian

    FEBS Letters. 2023 Nov., v. 597, no. 22 p.2728-2738

    2023  

    Abstract: Due to their essential functions, dysregulation of nuclear pore complexes (NPCs) is strongly associated with numerous human diseases, including neurodegeneration and cancer. On a cellular level, longevity of scaffold nucleoporins in postmitotic cells of ... ...

    Abstract Due to their essential functions, dysregulation of nuclear pore complexes (NPCs) is strongly associated with numerous human diseases, including neurodegeneration and cancer. On a cellular level, longevity of scaffold nucleoporins in postmitotic cells of both C. elegans and mammals renders them vulnerable to age‐related damage, which is associated with an increase in pore leakiness and accumulation of intranuclear aggregates in rat brain cells. Thus, understanding the mechanisms which underpin the homeostasis of this complex, as well as other nuclear proteins, is essential. In this review, autophagy‐mediated degradation pathways governing nuclear components in yeast will be discussed, with a particular focus on NPCs. Furthermore, the various nuclear degradation mechanisms identified thus far in diverse eukaryotes will also be highlighted.
    Keywords autophagy ; brain ; eukaryotic cells ; homeostasis ; humans ; longevity ; neurodegenerative diseases ; nuclear pore ; nucleoporins ; rats ; yeasts
    Language English
    Dates of publication 2023-11
    Size p. 2728-2738.
    Publishing place John Wiley & Sons, Ltd
    Document type Article ; Online
    Note REVIEW
    ZDB-ID 212746-5
    ISSN 1873-3468 ; 0014-5793
    ISSN (online) 1873-3468
    ISSN 0014-5793
    DOI 10.1002/1873-3468.14719
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  5. Article ; Online: Bypassing the nuclear gate: A non-canonical entry pathway for the mitochondrial pyruvate dehydrogenase complex.

    Boyle, Emily / Wilfling, Florian

    Molecular cell

    2022  Volume 82, Issue 5, Page(s) 886–888

    Abstract: Zervopoulos et al. (2022) propose a non-canonical nuclear import pathway for the functional mitochondrial pyruvate dehydrogenase complex (PDC), facilitated by dynamic MFN2-mediated tethering of mitochondria to the nuclear envelope upon exposure to ... ...

    Abstract Zervopoulos et al. (2022) propose a non-canonical nuclear import pathway for the functional mitochondrial pyruvate dehydrogenase complex (PDC), facilitated by dynamic MFN2-mediated tethering of mitochondria to the nuclear envelope upon exposure to proliferative stimuli.
    MeSH term(s) Cell Nucleus/metabolism ; Mitochondria/genetics ; Mitochondria/metabolism ; Pyruvate Dehydrogenase Complex/genetics ; Pyruvate Dehydrogenase Complex/metabolism
    Chemical Substances Pyruvate Dehydrogenase Complex
    Language English
    Publishing date 2022-03-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1415236-8
    ISSN 1097-4164 ; 1097-2765
    ISSN (online) 1097-4164
    ISSN 1097-2765
    DOI 10.1016/j.molcel.2022.02.014
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  6. Article ; Online: Post-Translational Modifications and Diabetes.

    Sharma, Chiranjeev / Hamza, Abu / Boyle, Emily / Donu, Dickson / Cen, Yana

    Biomolecules

    2024  Volume 14, Issue 3

    Abstract: Diabetes and its associated complications have increasingly become major challenges for global healthcare. The current therapeutic strategies involve insulin replacement therapy for type 1 diabetes (T1D) and small-molecule drugs for type 2 diabetes (T2D). ...

    Abstract Diabetes and its associated complications have increasingly become major challenges for global healthcare. The current therapeutic strategies involve insulin replacement therapy for type 1 diabetes (T1D) and small-molecule drugs for type 2 diabetes (T2D). Despite these advances, the complex nature of diabetes necessitates innovative clinical interventions for effective treatment and complication prevention. Accumulative evidence suggests that protein post-translational modifications (PTMs), including glycosylation, phosphorylation, acetylation, and SUMOylation, play important roles in diabetes and its pathological consequences. Therefore, the investigation of these PTMs not only sheds important light on the mechanistic regulation of diabetes but also opens new avenues for targeted therapies. Here, we offer a comprehensive overview of the role of several PTMs in diabetes, focusing on the most recent advances in understanding their functions and regulatory mechanisms. Additionally, we summarize the pharmacological interventions targeting PTMs that have advanced into clinical trials for the treatment of diabetes. Current challenges and future perspectives are also provided.
    MeSH term(s) Humans ; Diabetes Mellitus, Type 2/drug therapy ; Diabetes Mellitus, Type 2/metabolism ; Protein Processing, Post-Translational ; Phosphorylation ; Glycosylation ; Sumoylation
    Language English
    Publishing date 2024-03-06
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom14030310
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  7. Article: Bypassing the nuclear gate: A non-canonical entry pathway for the mitochondrial pyruvate dehydrogenase complex

    Boyle, Emily / Wilfling, Florian

    Molecular cell. 2022 Mar. 03, v. 82, no. 5

    2022  

    Abstract: Zervopoulos et al. (2022) propose a non-canonical nuclear import pathway for the functional mitochondrial pyruvate dehydrogenase complex (PDC), facilitated by dynamic MFN2-mediated tethering of mitochondria to the nuclear envelope upon exposure to ... ...

    Abstract Zervopoulos et al. (2022) propose a non-canonical nuclear import pathway for the functional mitochondrial pyruvate dehydrogenase complex (PDC), facilitated by dynamic MFN2-mediated tethering of mitochondria to the nuclear envelope upon exposure to proliferative stimuli.
    Keywords mitochondria ; nuclear membrane ; physiological transport ; pyruvate dehydrogenase (lipoamide)
    Language English
    Dates of publication 2022-0303
    Size p. 886-888.
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 1415236-8
    ISSN 1097-4164 ; 1097-2765
    ISSN (online) 1097-4164
    ISSN 1097-2765
    DOI 10.1016/j.molcel.2022.02.014
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  8. Article ; Online: Prevalence of carboxy-Δ

    Nair, Vinod S / Heybroek, Mari / Boyle, Emily / Rogers, Mason / Campbell, Thane / Eichner, Daniel / Hill, Kevin

    Drug testing and analysis

    2024  

    Abstract: ... ...

    Abstract Δ
    Language English
    Publishing date 2024-01-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2462336-2
    ISSN 1942-7611 ; 1942-7603
    ISSN (online) 1942-7611
    ISSN 1942-7603
    DOI 10.1002/dta.3631
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    Zs.A 6792: Show issues Location:
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  9. Article ; Online: Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.

    Sinnett, Sarah E / Boyle, Emily / Lyons, Christopher / Gray, Steven J

    Brain : a journal of neurology

    2021  Volume 144, Issue 10, Page(s) 3005–3019

    Abstract: MECP2 gene transfer has been shown to extend the survival of Mecp2-/y knockout mice modelling Rett syndrome, an X-linked neurodevelopmental disorder. However, controlling deleterious overexpression of MECP2 remains the critical unmet obstacle towards a ... ...

    Abstract MECP2 gene transfer has been shown to extend the survival of Mecp2-/y knockout mice modelling Rett syndrome, an X-linked neurodevelopmental disorder. However, controlling deleterious overexpression of MECP2 remains the critical unmet obstacle towards a safe and effective gene therapy approach for Rett syndrome. A recently developed truncated miniMECP2 gene has also been shown to be therapeutic after AAV9-mediated gene transfer in knockout neonates. We show that AAV9/miniMECP2 has a similar dose-dependent toxicity profile to that of a published second-generation AAV9/MECP2 vector after treatment in adolescent mice. To overcome that toxicity, we developed a risk-driven viral genome design strategy rooted in high-throughput profiling and genome mining to rationally develop a compact, synthetic microRNA target panel (miR-responsive auto-regulatory element, 'miRARE') to minimize the possibility of miniMECP2 transgene overexpression in the context of Rett syndrome gene therapy. The goal of miRARE is to have a built-in inhibitory element responsive to MECP2 overexpression. The data provided herein show that insertion of miRARE into the miniMECP2 gene expression cassette greatly improved the safety of miniMECP2 gene transfer without compromising efficacy. Importantly, this built-in regulation system does not require any additional exogenous drug application, and no miRNAs are expressed from the transgene cassette. Although broad applications of miRARE have yet to be determined, the design of miRARE suggests a potential use in gene therapy approaches for other dose-sensitive genes.
    MeSH term(s) Animals ; Genetic Therapy/methods ; Humans ; Injections, Spinal ; Methyl-CpG-Binding Protein 2/administration & dosage ; Methyl-CpG-Binding Protein 2/genetics ; Mice ; Mice, Knockout ; MicroRNAs/administration & dosage ; MicroRNAs/genetics ; Protein Engineering/methods ; Regulatory Elements, Transcriptional/genetics ; Rett Syndrome/genetics ; Rett Syndrome/therapy
    Chemical Substances Mecp2 protein, mouse ; Methyl-CpG-Binding Protein 2 ; MicroRNAs
    Language English
    Publishing date 2021-05-05
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awab182
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  10. Article ; Online: Re-amputation and survival following toe amputation: outcome data from a tertiary referral centre.

    Collins, Patrick M / Joyce, Doireann P / O'Beirn, Ellen S / Elkady, Ramy / Boyle, Emily / Egan, Bridget / Tierney, Sean

    Irish journal of medical science

    2021  Volume 191, Issue 3, Page(s) 1193–1199

    Abstract: Purpose: Toe amputation is a commonly performed procedure for irreversible foot sepsis. However, outcome and predictors of outcome are poorly understood. Our aim was to determine survival and rate of progression to further amputation following index toe ...

    Abstract Purpose: Toe amputation is a commonly performed procedure for irreversible foot sepsis. However, outcome and predictors of outcome are poorly understood. Our aim was to determine survival and rate of progression to further amputation following index toe amputation.
    Methods: Consecutive patients between 2010 and 2015 were included. Progression to further minor amputation, major amputation or death was recorded. Multivariable Cox regression analyses were undertaken to determine independent predictors of outcome and survival.
    Results: One hundred forty-six patients were included, with mean age of 65 years. Fifty-five (37.7%) patients underwent hallux amputation, while 91 (62.3%) underwent amputation of non-hallux digit(s). Following index toe amputation, 63 (43.2%) patients progressed to further minor or major ipsilateral amputation, median time to which was 36 months. Twenty-one patients (14.4%) progressed to major ipsilateral amputation. Patients undergoing index non-hallux amputation were significantly more likely to require further minor amputation (P = 0.050); however, the rate of major amputation between hallux (14.5%) and non-hallux (14.3%) groups was similar. Overall, 5-year ipsilateral amputation-free (iAFS) was 39.6 ± 4.1%, ipsilateral major amputation-free (iMAFS) was 55.9 ± 4.1% and overall survival (OS) was 64.3 ± 4.0% and did not differ between index amputation sites.
    Conclusion: Almost half of patients undergoing toe amputation required further digital amputation. However, limb preservation rates are high, and a majority of patients are alive at 5-year follow-up. There was no significant difference in outcome between patients undergoing hallux and non-hallux primary procedures. Overall, increasing age remains the only independent predictor of iMAFS and OS.
    MeSH term(s) Aged ; Amputation/methods ; Diabetic Foot ; Humans ; Retrospective Studies ; Risk Factors ; Tertiary Care Centers ; Toes/surgery ; Treatment Outcome
    Language English
    Publishing date 2021-06-22
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 390895-1
    ISSN 1863-4362 ; 0021-1265
    ISSN (online) 1863-4362
    ISSN 0021-1265
    DOI 10.1007/s11845-021-02682-4
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