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  1. Article ; Online: Pathology in the Parkinson's Progression Markers Initiative; a Finale but also a start.

    Camicioli, Richard / Cookson, Mark R

    Parkinsonism & related disorders

    2022  Volume 101, Page(s) 117–118

    MeSH term(s) Biomarkers ; Disease Progression ; Humans ; Parkinson Disease/diagnosis
    Chemical Substances Biomarkers
    Language English
    Publishing date 2022-07-21
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.07.015
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  2. Article ; Online: Proteomics: techniques and applications in neuroscience.

    Cookson, Mark R

    Journal of neurochemistry

    2019  Volume 151, Issue 4, Page(s) 394–396

    Abstract: This Preface introduces the articles of the special issue on 'Proteomics' where we survey these powerful techniques specifically in the context of applications in neurosciences. Proteomics as used here is a catch-all term for approaches where a broad ... ...

    Abstract This Preface introduces the articles of the special issue on 'Proteomics' where we survey these powerful techniques specifically in the context of applications in neurosciences. Proteomics as used here is a catch-all term for approaches where a broad survey of all protein content of a cell or tissue is performed in parallel. In the special issue, various experts outline applications as diverse as finding disease biomarkers in human samples, including living participants or post-mortem brain, as well as application of protein technologies to model systems such as animals and cells. Collectively, these articles outline the utility of current technologies for proteome interrogation and identify enhancements that will shape applications to future studies. This is the Preface for the special issue "Proteomics". Cover Image for this issue: doi: 10.1111/jnc.14530.
    MeSH term(s) Brain/metabolism ; Humans ; Neurosciences/methods ; Proteome/metabolism ; Proteomics/methods
    Chemical Substances Proteome
    Language English
    Publishing date 2019-10-17
    Publishing country England
    Document type Introductory Journal Article ; Research Support, N.I.H., Intramural
    ZDB-ID 80158-6
    ISSN 1471-4159 ; 0022-3042 ; 1474-1644
    ISSN (online) 1471-4159
    ISSN 0022-3042 ; 1474-1644
    DOI 10.1111/jnc.14867
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  3. Article ; Online: Generation of gene-corrected isogenic controls from Parkinson's disease patient iPSC lines carrying the pathogenic SNCA p.A53T variant.

    Kozhushko, Nikita / Beilina, Aleksandra / Cookson, Mark R

    Stem cell research

    2023  Volume 69, Page(s) 103125

    Abstract: Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson's disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The ... ...

    Abstract Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson's disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The controls were created using CRISPR/Cas9 technology and are available for use by the PD research community to study A53T-related synucleinopathies.
    MeSH term(s) Humans ; Parkinson Disease/pathology ; Induced Pluripotent Stem Cells/metabolism ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism ; Gene Expression Regulation ; Gene Expression
    Chemical Substances alpha-Synuclein ; SNCA protein, human
    Language English
    Publishing date 2023-05-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2023.103125
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  4. Article ; Online: Retromer-dependent lysosomal stress in Parkinson's disease.

    Alessi, Dario R / Cullen, Peter J / Cookson, Mark / Merchant, Kalpana M / Small, Scott A

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

    2024  Volume 379, Issue 1899, Page(s) 20220376

    Abstract: While causative mutations in complex disorders are rare, they can be used to extract a biological pathway whose pathogenicity can generalize to common forms of the disease. Here we begin by relying on the biological consequences of mutations in LRRK2 and ...

    Abstract While causative mutations in complex disorders are rare, they can be used to extract a biological pathway whose pathogenicity can generalize to common forms of the disease. Here we begin by relying on the biological consequences of mutations in LRRK2 and VPS35, genetic causes of autosomal-dominant Parkinson's disease, to hypothesize that 'Retromer-dependent lysosomal stress' represents a pathway that can generalize to idiopathic Parkinson's disease. Next, we outline a series of studies that can test this hypothesis, including the development of biomarkers of pathway dysfunction. If validated, the hypothesis can suggest a unified mechanism of disease and might inform future diagnostic and therapeutic investigations. 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 ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism ; Mutation ; Lysosomes/metabolism
    Chemical Substances Vesicular Transport Proteins
    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.2022.0376
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    In stock of ZB MED Cologne/Königswinter

    Einzelsignatur: Show issues

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  5. Article ; Online: Generation of gene-corrected isogenic controls from Parkinson's disease patient iPSC lines carrying the pathogenic SNCA p.A53T variant

    Nikita Kozhushko / Aleksandra Beilina / Mark R. Cookson

    Stem Cell Research, Vol 69, Iss , Pp 103125- (2023)

    2023  

    Abstract: Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson’s disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The ... ...

    Abstract Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson’s disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The controls were created using CRISPR/Cas9 technology and are available for use by the PD research community to study A53T-related synucleinopathies.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2023-06-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article: Gene Linkage and Systems Biology.

    Cookson, Mark R

    Advances in neurobiology

    2017  Volume 15, Page(s) 479–489

    Abstract: In the past two decades it has become increasingly clear that the risk for many neurodegenerative disorders is at least partially genetic. Assignment of causality for a given gene depends on showing that a particular variant shows either segregation ... ...

    Abstract In the past two decades it has become increasingly clear that the risk for many neurodegenerative disorders is at least partially genetic. Assignment of causality for a given gene depends on showing that a particular variant shows either segregation within a family or association with disease across a population. In terms of lifetime risk of disease, the former generally show strong effects compared to the latter. In rare, but interesting, circumstances there are genetic loci that contain different variants that encode either highly penetrant Mendelian disease but also that contribute to risk of sporadic disease. Here, we will discuss the current efforts to complete our understanding of the genetic architecture of neurodegenerative diseases of aging with a particular focus on Parkinson's disease. We will also briefly outline attempts to use systematic approaches to infer relationships between genes associated with the same diseases, which likely demonstrate that in each case there are a relatively small number of underlying biological pathways or processes that may explain pathogenesis.
    MeSH term(s) Alzheimer Disease/genetics ; Amyotrophic Lateral Sclerosis/genetics ; Genetic Linkage ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Neurodegenerative Diseases/genetics ; Parkinson Disease/genetics ; Systems Biology
    Language English
    Publishing date 2017-07-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ISSN 2190-5215
    ISSN 2190-5215
    DOI 10.1007/978-3-319-57193-5_19
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  7. Article: Mechanisms of Mutant LRRK2 Neurodegeneration.

    Cookson, Mark R

    Advances in neurobiology

    2017  Volume 14, Page(s) 227–239

    Abstract: LRRK2 mutations are associated with the loss of neurons, that is to say toxicity, in patients and in experimental model systems. However, the mechanisms by which mutations can be linked to neurodegeneration are not fully defined. Here I will argue that ... ...

    Abstract LRRK2 mutations are associated with the loss of neurons, that is to say toxicity, in patients and in experimental model systems. However, the mechanisms by which mutations can be linked to neurodegeneration are not fully defined. Here I will argue that mechanism in this context encompasses a variety of levels of information. Mutations or alterations in gene expression at a genetic level are one set of mechanisms that are reflected at the biochemical level likely in enhanced or persistent function of LRRK2. By impacting cellular pathways, prominently including changes in autophagy but also microtubule function, mitochondria and protein synthesis, in neurons and immune cells, the LRRK2 brain is primed for neurodegeneration in an age-dependent manner. These concepts have implications for not only modeling LRRK2 disease but also perhaps for Parkinson's disease more generally, including the development of therapeutic modalities.
    MeSH term(s) Animals ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Mutation ; Nerve Degeneration/genetics
    Chemical Substances Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1)
    Language English
    Publishing date 2017-03-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ISSN 2190-5215
    ISSN 2190-5215
    DOI 10.1007/978-3-319-49969-7_12
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  8. Article ; Online: Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modeling.

    Ryan, Mallory / McDonough, Justin A / Ward, Michael E / Cookson, Mark R / Skarnes, William C / Merkle, Florian T

    Cell stem cell

    2024  Volume 31, Issue 3, Page(s) 290–291

    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Letter
    ZDB-ID 2375354-7
    ISSN 1875-9777 ; 1934-5909
    ISSN (online) 1875-9777
    ISSN 1934-5909
    DOI 10.1016/j.stem.2024.02.006
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    Zs.A 6589: Show issues Location:
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  9. Article ; Online: The endoplasmic reticulum contributes to lysosomal tubulation/sorting driven by LRRK2.

    Bonet-Ponce, Luis / Cookson, Mark R

    Molecular biology of the cell

    2022  Volume 33, Issue 13, Page(s) ar124

    Abstract: Lysosomes are dynamic organelles that can remodel their membrane as an adaptive response to various cell signaling events including membrane damage. Recently, we have discovered that damaged lysosomes form and sort tubules into moving vesicles. We named ... ...

    Abstract Lysosomes are dynamic organelles that can remodel their membrane as an adaptive response to various cell signaling events including membrane damage. Recently, we have discovered that damaged lysosomes form and sort tubules into moving vesicles. We named this process LYTL for LYsosomal Tubulation/sorting driven by LRRK2, as the Parkinson's disease protein LRRK2 promotes tubulation by recruiting the motor adaptor protein JIP4 to lysosomes via phosphorylated RAB proteins. Here we use spinning-disk microscopy combined with superresolution to further characterize LYTL after membrane damage with LLOMe (l-leucyl-l-leucine methyl ester). We identified the endoplasmic reticulum (ER) colocalizing with sites of fission of lysosome-derived tubules. In addition, modifying the morphology of the ER by reducing ER tubules leads to a decrease in LYTL sorting, suggesting that contact with tubular ER is necessary for lysosomal membrane sorting. Given the central roles of LRRK2 and lysosomal biology in Parkinson's disease, these discoveries are likely relevant to disease pathology and highlight interactions between organelles in this model.
    MeSH term(s) Dyneins/metabolism ; Endoplasmic Reticulum/metabolism ; Humans ; Intracellular Membranes/metabolism ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/metabolism ; Lysosomes/metabolism ; Parkinson Disease/metabolism ; Protein Transport
    Chemical Substances LRRK2 protein, human (EC 2.7.11.1) ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1) ; Dyneins (EC 3.6.4.2)
    Language English
    Publishing date 2022-08-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1098979-1
    ISSN 1939-4586 ; 1059-1524
    ISSN (online) 1939-4586
    ISSN 1059-1524
    DOI 10.1091/mbc.E22-04-0139
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    Zs.MO 410: Show issues

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  10. Article ; Online: Pathways of protein synthesis and degradation in PD pathogenesis.

    Langston, Rebekah G / Cookson, Mark R

    Progress in brain research

    2020  Volume 252, Page(s) 217–270

    Abstract: Since the discovery of protein aggregates in the brains of individuals with Parkinson's disease (PD) in the early 20th century, the scientific community has been interested in the role of dysfunctional protein metabolism in PD etiology. Recent advances ... ...

    Abstract Since the discovery of protein aggregates in the brains of individuals with Parkinson's disease (PD) in the early 20th century, the scientific community has been interested in the role of dysfunctional protein metabolism in PD etiology. Recent advances in the field have implicated defective protein handling underlying PD through genetic, in vitro, and in vivo studies incorporating many disease models alongside neuropathological evidence. Here, we discuss the existing body of research focused on understanding cellular pathways of protein synthesis and degradation, and how aberrations in either system could engender PD pathology with special attention to α-synuclein-related consequences. We consider transcription, translation, and post-translational modification to constitute protein synthesis, and protein degradation to encompass proteasome-, lysosome- and endoplasmic reticulum-dependent mechanisms. Novel findings connecting each of these steps in protein metabolism to development of PD indicate that deregulation of protein production and turnover remains an exciting area in PD research.
    MeSH term(s) Animals ; Autophagy ; Humans ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Proteasome Endopeptidase Complex/metabolism ; Protein Biosynthesis ; Proteolysis ; Transcription, Genetic ; alpha-Synuclein/metabolism
    Chemical Substances alpha-Synuclein ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2020-02-10
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ISSN 1875-7855 ; 0079-6123
    ISSN (online) 1875-7855
    ISSN 0079-6123
    DOI 10.1016/bs.pbr.2020.01.002
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