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  1. Article ; Online: PINK1: From Parkinson's disease to mitophagy and back again.

    O'Callaghan, Benjamin / Hardy, John / Plun-Favreau, Helene

    PLoS biology

    2023  Volume 21, Issue 6, Page(s) e3002196

    Abstract: The genetics of Parkinson's disease has been key to unravelling the PINK1-dependent mitophagy process. Here, we discuss the implications of a 2010 PLOS Biology paper that shed light on the functional importance of PINK1 in the mitophagy cascade. ...

    Abstract The genetics of Parkinson's disease has been key to unravelling the PINK1-dependent mitophagy process. Here, we discuss the implications of a 2010 PLOS Biology paper that shed light on the functional importance of PINK1 in the mitophagy cascade.
    MeSH term(s) Humans ; Mitophagy ; Protein Kinases/genetics ; Parkinson Disease/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances Protein Kinases (EC 2.7.-) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2023-06-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2126776-5
    ISSN 1545-7885 ; 1544-9173
    ISSN (online) 1545-7885
    ISSN 1544-9173
    DOI 10.1371/journal.pbio.3002196
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Protein network analysis links the NSL complex to Parkinson's disease

    Kelly, Katie / Lewis, Patrick A / Plun-Favreau, Helene / Manzoni, Claudia

    Molecular omics

    2023  Volume 19, Issue 8, Page(s) 668–679

    Abstract: Whilst the majority of Parkinson's Disease (PD) cases are sporadic, much of our understanding of the pathophysiological basis of the disease can be traced back to the study of rare, monogenic forms of PD. In the past decade, the availability of genome- ... ...

    Abstract Whilst the majority of Parkinson's Disease (PD) cases are sporadic, much of our understanding of the pathophysiological basis of the disease can be traced back to the study of rare, monogenic forms of PD. In the past decade, the availability of genome-wide association studies (GWAS) has facilitated a shift in focus, toward identifying common risk variants conferring increased risk of developing PD across the population. A recent mitophagy screening assay of GWAS candidates has functionally implicated the non-specific lethal (NSL) complex in the regulation of PINK1-mitophagy. Here, a bioinformatics approach has been taken to investigate the proteome of the NSL complex, to unpick its relevance to PD pathogenesis. The NSL interactome has been built, using 3 online tools: PINOT, HIPPIE and MIST, to mine curated, literature-derived protein-protein interaction (PPI) data. We built (i) the 'mitochondrial' NSL interactome exploring its relevance to PD genetics and (ii) the PD-oriented NSL interactome to uncover biological pathways underpinning the NSL/PD association. In this study, we find the mitochondrial NSL interactome to be significantly enriched for the protein products of PD-associated genes, including the Mendelian PD genes
    MeSH term(s) Humans ; Parkinson Disease/genetics ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Proteome/genetics ; Biology
    Chemical Substances Proteome
    Language English
    Publishing date 2023-09-25
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2515-4184
    ISSN (online) 2515-4184
    DOI 10.1039/d2mo00325b
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.

    Bhore, Noopur / Bogacki, Erin C / O'Callaghan, Benjamin / Plun-Favreau, Helene / Lewis, Patrick A / Herbst, Susanne

    Philosophical transactions of the Royal Society of London. Series B, Biological sciences

    2024  Volume 379, Issue 1899, Page(s) 20220517

    Abstract: Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the identification ... ...

    Abstract Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the identification of monogenic forms and, more recently, through genome-wide association studies identifying common risk variants. Intriguingly, a number of cellular pathways have emerged from these analysis as playing central roles in the aetiopathogenesis of Parkinson's. In this review, the impact of data deriving from genome-wide analyses for Parkinson's upon our functional understanding of the disease will be examined, with a particular focus on examples of endo-lysosomal and mitochondrial dysfunction. The challenges of moving from a genetic to a functional understanding of common risk variants for Parkinson's will be discussed, with a final consideration of the current state of the genetic architecture of the disorder. This article is part of a discussion meeting issue 'Understanding the endo-lysosomal network in neurodegeneration'.
    MeSH term(s) Humans ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Risk Factors ; Lysosomes/genetics ; Lysosomes/metabolism ; Lysosomes/pathology
    Language English
    Publishing date 2024-02-19
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 208382-6
    ISSN 1471-2970 ; 0080-4622 ; 0264-3839 ; 0962-8436
    ISSN (online) 1471-2970
    ISSN 0080-4622 ; 0264-3839 ; 0962-8436
    DOI 10.1098/rstb.2022.0517
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Einzelsignatur: Show issues

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  4. Article ; Online: Vesicle trafficking and pathways to neurodegeneration.

    Blackstone, Craig / Elwood, Fiona / Plun-Favreau, Helene / Lewis, Patrick A

    Molecular neurodegeneration

    2021  Volume 16, Issue 1, Page(s) 56

    MeSH term(s) Animals ; Autophagy ; Axonal Transport ; Biological Transport/drug effects ; Biological Transport/physiology ; Drug Discovery ; Endoplasmic Reticulum/physiology ; Endosomes/physiology ; Golgi Apparatus/physiology ; Lysosomes/physiology ; Mitochondria/physiology ; Neurodegenerative Diseases/physiopathology ; Nootropic Agents/pharmacology ; Protein Transport ; Synapses/chemistry ; Synapses/physiology ; Transport Vesicles/physiology
    Chemical Substances Nootropic Agents
    Language English
    Publishing date 2021-08-21
    Publishing country England
    Document type Congress ; Research Support, Non-U.S. Gov't
    ZDB-ID 2244557-2
    ISSN 1750-1326 ; 1750-1326
    ISSN (online) 1750-1326
    ISSN 1750-1326
    DOI 10.1186/s13024-021-00480-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Reply to: "Light and Shade in Patrick Lewis et al's Paper on the First Photographs of Parkinson's Disease".

    Lewis, Patrick A / Plun-Favreau, Helene / Rowley, Mark / Spillane, Jennifer

    Movement disorders : official journal of the Movement Disorder Society

    2020  Volume 35, Issue 10, Page(s) 1882

    MeSH term(s) Humans ; Parkinson Disease
    Language English
    Publishing date 2020-10-17
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.28237
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    Zs.MO 238: Show issues

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  6. Article ; Online: Pierre D. and the first photographs of Parkinson's disease.

    Lewis, Patrick A / Plun-Favreau, Helene / Rowley, Mark / Spillane, Jennifer

    Movement disorders : official journal of the Movement Disorder Society

    2020  Volume 35, Issue 3, Page(s) 389–391

    MeSH term(s) Humans ; Parkinson Disease
    Language English
    Publishing date 2020-01-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.27965
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  7. Article ; Online: Mutations and mechanism: how PINK1 may contribute to risk of sporadic Parkinson's disease.

    Gandhi, Sonia / Plun-Favreau, Helene

    Brain : a journal of neurology

    2016  Volume 140, Issue 1, Page(s) 2–5

    MeSH term(s) Heterozygote ; Humans ; Mutation ; Parkinson Disease ; Protein Kinases/genetics ; Risk ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27) ; Protein Kinases (EC 2.7.-)
    Language English
    Publishing date 2016-12-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/aww320
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  8. Article ; Online: The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.

    Hicks, Amy R / Reynolds, Regina H / O'Callaghan, Benjamin / García-Ruiz, Sonia / Gil-Martínez, Ana Luisa / Botía, Juan / Plun-Favreau, Hélène / Ryten, Mina

    Brain : a journal of neurology

    2023  Volume 146, Issue 12, Page(s) 4974–4987

    Abstract: Genetic variants conferring risks for Parkinson's disease have been highlighted through genome-wide association studies, yet exploration of their specific disease mechanisms is lacking. Two Parkinson's disease candidate genes, KAT8 and KANSL1, identified ...

    Abstract Genetic variants conferring risks for Parkinson's disease have been highlighted through genome-wide association studies, yet exploration of their specific disease mechanisms is lacking. Two Parkinson's disease candidate genes, KAT8 and KANSL1, identified through genome-wide studies and a PINK1-mitophagy screen, encode part of the histone acetylating non-specific lethal complex. This complex localizes to the nucleus, where it plays a role in transcriptional activation, and to mitochondria, where it has been suggested to have a role in mitochondrial transcription. In this study, we sought to identify whether the non-specific lethal complex has potential regulatory relationships with other genes associated with Parkinson's disease in human brain. Correlation in the expression of non-specific lethal genes and Parkinson's disease-associated genes was investigated in primary gene co-expression networks using publicly-available transcriptomic data from multiple brain regions (provided by the Genotype-Tissue Expression Consortium and UK Brain Expression Consortium), whilst secondary networks were used to examine cell type specificity. Reverse engineering of gene regulatory networks generated regulons of the complex, which were tested for heritability using stratified linkage disequilibrium score regression. Prioritized gene targets were then validated in vitro using a QuantiGene multiplex assay and publicly-available chromatin immunoprecipitation-sequencing data. Significant clustering of non-specific lethal genes was revealed alongside Parkinson's disease-associated genes in frontal cortex primary co-expression modules, amongst other brain regions. Both primary and secondary co-expression modules containing these genes were enriched for mainly neuronal cell types. Regulons of the complex contained Parkinson's disease-associated genes and were enriched for biological pathways genetically linked to disease. When examined in a neuroblastoma cell line, 41% of prioritized gene targets showed significant changes in mRNA expression following KANSL1 or KAT8 perturbation. KANSL1 and H4K8 chromatin immunoprecipitation-sequencing data demonstrated non-specific lethal complex activity at many of these genes. In conclusion, genes encoding the non-specific lethal complex are highly correlated with and regulate genes associated with Parkinson's disease. Overall, these findings reveal a potentially wider role for this protein complex in regulating genes and pathways implicated in Parkinson's disease.
    MeSH term(s) Humans ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Genome-Wide Association Study ; Mitochondria/metabolism ; Brain/metabolism ; Gene Regulatory Networks
    Language English
    Publishing date 2023-08-29
    Publishing country England
    Document type Journal Article ; 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/awad246
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  9. Article: Culprit or Bystander: Defective Mitophagy in Alzheimer's Disease.

    Xie, Chenglong / Aman, Yahyah / Adriaanse, Bryan A / Cader, M Zameel / Plun-Favreau, Hélène / Xiao, Jian / Fang, Evandro F

    Frontiers in cell and developmental biology

    2020  Volume 7, Page(s) 391

    Abstract: Mitophagy is a selective engulfment and degradation of damaged mitochondria through the cellular autophagy machinery, a major mechanism responsible for mitochondrial quality control. Increased accumulation of damaged mitochondria in the Alzheimer's ... ...

    Abstract Mitophagy is a selective engulfment and degradation of damaged mitochondria through the cellular autophagy machinery, a major mechanism responsible for mitochondrial quality control. Increased accumulation of damaged mitochondria in the Alzheimer's disease (AD) human brain are evident, although underlying mechanisms largely elusive. Recent studies indicate impaired mitophagy may contribute to the accumulation of damaged mitochondria in cross-species AD animal models and in AD patient iPSC-derived neurons. Studies from AD highlight feed-forward vicious cycles between defective mitophagy, and the principal AD pathological hallmarks, including amyloid-β plaques, tau tangles, and inflammation. The concomitant and intertwined connections among those hallmarks of AD and the absence of a real humanized AD rodent model present a challenge on how to determine if defective mitophagy is an early event preceding and causal of Tau/Aβ proteinopathies. Whilst further studies are required to understand these relationships, targeting defective mitophagy holds promise as a new therapeutic strategy for AD.
    Language English
    Publishing date 2020-01-17
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2737824-X
    ISSN 2296-634X
    ISSN 2296-634X
    DOI 10.3389/fcell.2019.00391
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  10. Article ; Online: Exploring autophagy with Gene Ontology.

    Denny, Paul / Feuermann, Marc / Hill, David P / Lovering, Ruth C / Plun-Favreau, Helene / Roncaglia, Paola

    Autophagy

    2018  Volume 14, Issue 3, Page(s) 419–436

    Abstract: Autophagy is a fundamental cellular process that is well conserved among eukaryotes. It is one of the strategies that cells use to catabolize substances in a controlled way. Autophagy is used for recycling cellular components, responding to cellular ... ...

    Abstract Autophagy is a fundamental cellular process that is well conserved among eukaryotes. It is one of the strategies that cells use to catabolize substances in a controlled way. Autophagy is used for recycling cellular components, responding to cellular stresses and ridding cells of foreign material. Perturbations in autophagy have been implicated in a number of pathological conditions such as neurodegeneration, cardiac disease and cancer. The growing knowledge about autophagic mechanisms needs to be collected in a computable and shareable format to allow its use in data representation and interpretation. The Gene Ontology (GO) is a freely available resource that describes how and where gene products function in biological systems. It consists of 3 interrelated structured vocabularies that outline what gene products do at the biochemical level, where they act in a cell and the overall biological objectives to which their actions contribute. It also consists of 'annotations' that associate gene products with the terms. Here we describe how we represent autophagy in GO, how we create and define terms relevant to autophagy researchers and how we interrelate those terms to generate a coherent view of the process, therefore allowing an interoperable description of its biological aspects. We also describe how annotation of gene products with GO terms improves data analysis and interpretation, hence bringing a significant benefit to this field of study.
    MeSH term(s) Animals ; Autophagy/genetics ; Databases, Genetic ; Gene Ontology ; Humans ; Molecular Sequence Annotation ; Parkinson Disease/genetics ; Proteins/metabolism
    Chemical Substances Proteins
    Language English
    Publishing date 2018-02-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2454135-7
    ISSN 1554-8635 ; 1554-8627
    ISSN (online) 1554-8635
    ISSN 1554-8627
    DOI 10.1080/15548627.2017.1415189
    Database MEDical Literature Analysis and Retrieval System OnLINE

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