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  1. Article ; Online: Five questions on improving diversity, equity and inclusion in UK bioscience research or "How can UK bioscience be changed so that those from marginalised groups can thrive?"

    Cox, Anna L / Mole, Sara E

    BBA advances

    2024  Volume 5, Page(s) 100114

    Abstract: Diversity, equity, and inclusion play pivotal roles in advancing science and innovation by fostering a rich and supportive environment that benefits both individuals and society. UK bioscience research units are still on a journey towards being inclusive, ...

    Abstract Diversity, equity, and inclusion play pivotal roles in advancing science and innovation by fostering a rich and supportive environment that benefits both individuals and society. UK bioscience research units are still on a journey towards being inclusive, and existing research on effecting changes in diversity, equity, and inclusion has yet to make an impact at the scale needed to transform the sector, leaving many to wonder
    Language English
    Publishing date 2024-01-11
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2667-1603
    ISSN (online) 2667-1603
    DOI 10.1016/j.bbadva.2024.100114
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book: The neuronal ceroid lipofuscinoses (Batten disease)

    Mole, Sara E.

    2011  

    Author's details ed. by Sara E. Mole
    Keywords Neuronal Ceroid-Lipofuscinoses
    Language English
    Size XXX, 443 S. : Ill., graph. Darst., 26 cm
    Edition 2. ed.
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    Note Previous ed.: Amsterdam; Oxford: IOS Press, 1999. - Includes bibliographical references and index
    HBZ-ID HT016766219
    ISBN 978-0-19-959001-8 ; 0-19-959001-X
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2011 A 1176 order for loan Magazin

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  3. Article: The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.

    Gardner, Emily / Mole, Sara E

    Frontiers in neurology

    2021  Volume 12, Page(s) 754045

    Abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the ...

    Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the first causative genes, more than 530 mutations have been identified across 13 genes in cases diagnosed with NCL. These genes encode a variety of proteins whose functions have not been fully defined; most are lysosomal enzymes, or transmembrane proteins of the lysosome or other organelles. Many mutations in these genes are associated with a typical NCL disease phenotype. However, increasing numbers of variant disease phenotypes are being described, affecting age of onset, severity or progression, and including some distinct clinical phenotypes. This data is collated by the NCL Mutation Database which allows analysis from many perspectives. This article will summarise and interpret current knowledge and understanding of their genetic basis and phenotypic heterogeneity.
    Language English
    Publishing date 2021-10-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2021.754045
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The value of a comprehensive natural history in late infantile CLN5 disease.

    Mole, Sara E

    Developmental medicine and child neurology

    2017  Volume 59, Issue 8, Page(s) 777–778

    MeSH term(s) Humans ; Membrane Proteins ; Neuronal Ceroid-Lipofuscinoses
    Chemical Substances Membrane Proteins
    Language English
    Publishing date 2017
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.13472
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  5. Article ; Online: Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models.

    McShane, Annie / Mole, Sara E

    Biochimica et biophysica acta. Molecular basis of disease

    2022  Volume 1868, Issue 11, Page(s) 166489

    Abstract: Batten disease, also known as the neuronal ceroid lipofuscinoses (NCL), is a group of inherited neurodegenerative disorders mainly affecting children. NCL are characterised by seizures, loss of vision, and progressive motor and cognitive decline, and are ...

    Abstract Batten disease, also known as the neuronal ceroid lipofuscinoses (NCL), is a group of inherited neurodegenerative disorders mainly affecting children. NCL are characterised by seizures, loss of vision, and progressive motor and cognitive decline, and are the most common form of childhood dementia. At least one type of Batten disease and three types of mouse disease models show sex differences in their severity and progression. Scientific research has a recognised prevalent omission of female animals when using model organisms for basic and preclinical research. Sex bias and omission in research using animal models of Batten disease may affect understanding and treatment development. We conducted a systematic review of research publications since the first identification of NCL genes in 1995, identifying those using animal models. We found that <10 % of these papers considered sex as a biological variable. There was consistent omission of female model organisms in studies. This varied over the period but is improving; one third of papers considered sex as a biological variable in the last decade, and there is a noticeable increase in the last 5 years. The wide-ranging reasons for this published sex bias are discussed, including misunderstanding regarding oestrogen, impact on sample size, and the underrepresentation of female scientists. Their implications for Batten disease and future research are considered. Recommendations going forward support requirements by funders for consideration of sex in all stages of experimental design and implementation, and a role for publishers, families and others with a particular interest in Batten disease.
    MeSH term(s) Animals ; Disease Models, Animal ; Estrogens ; Female ; Male ; Mice ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/therapy ; Research Design ; Sexism
    Chemical Substances Estrogens
    Language English
    Publishing date 2022-07-14
    Publishing country Netherlands
    Document type Journal Article ; Systematic Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2022.166489
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

    Cooper, Jonathan D / Mole, Sara E

    Biochimica et biophysica acta. Molecular basis of disease

    2020  Volume 1866, Issue 9, Page(s) 165681

    Abstract: Progress is being made in all aspects of Neuronal Ceroid Lipofuscinosis (NCL) research, resulting in many recent advances. These advances encompass several areas that were previously thought intractable, ranging from basic science, through to a better ... ...

    Abstract Progress is being made in all aspects of Neuronal Ceroid Lipofuscinosis (NCL) research, resulting in many recent advances. These advances encompass several areas that were previously thought intractable, ranging from basic science, through to a better understanding of the clinical presentation of different forms of NCL, therapeutic development, and new clinical trials that are underway. Increasing numbers of original NCL research papers continue to be published, and this new sense of momentum is greatly encouraging for the field. Here, we make some predictions as to what we can anticipate in the next few years.
    MeSH term(s) Animals ; Biomedical Research ; Disease Models, Animal ; Genetic Therapy ; Humans ; Neuronal Ceroid-Lipofuscinoses/metabolism ; Neuronal Ceroid-Lipofuscinoses/pathology ; Neuronal Ceroid-Lipofuscinoses/therapy
    Language English
    Publishing date 2020-01-08
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2020.165681
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Development of new treatments for Batten disease.

    Mole, Sara E

    The Lancet. Neurology

    2014  Volume 13, Issue 8, Page(s) 749–751

    MeSH term(s) Acetylcysteine/administration & dosage ; Cysteamine/administration & dosage ; Female ; Humans ; Male ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/drug therapy
    Chemical Substances Cysteamine (5UX2SD1KE2) ; Acetylcysteine (WYQ7N0BPYC)
    Language English
    Publishing date 2014-08
    Publishing country England
    Document type Comment ; Journal Article
    ZDB-ID 2079704-7
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(14)70151-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Special edition: The NCLs/Batten disease.

    Rahim, Ahad A / Russell, Claire / Mole, Sara E

    Biochimica et biophysica acta. Molecular basis of disease

    2020  Volume 1866, Issue 9, Page(s) 165824

    MeSH term(s) Animals ; Humans ; Models, Biological ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/metabolism ; Neuronal Ceroid-Lipofuscinoses/therapy
    Language English
    Publishing date 2020-05-05
    Publishing country Netherlands
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2020.165824
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

    Marisa Ofrim / Daniel Little / Mina Nazari / Christopher J. Minnis / Michael J. Devine / Sara E. Mole / Paul Gissen / Maëlle Lorvellec

    Stem Cell Research, Vol 74, Iss , Pp 103291- (2024)

    2024  

    Abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal ... ...

    Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons. These hiPSCs represent a potential resource to model CLN5 disease in a human context and investigate potential therapies.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2024-02-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.

    Ofrim, Marisa / Little, Daniel / Nazari, Mina / Minnis, Christopher J / Devine, Michael J / Mole, Sara E / Gissen, Paul / Lorvellec, Maëlle

    Stem cell research

    2023  Volume 74, Page(s) 103291

    Abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal ... ...

    Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons. These hiPSCs represent a potential resource to model CLN5 disease in a human context and investigate potential therapies.
    MeSH term(s) Humans ; Membrane Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/genetics ; Induced Pluripotent Stem Cells/metabolism ; Lysosomal Membrane Proteins/genetics ; Mutation/genetics ; Fibroblasts/metabolism
    Chemical Substances Membrane Proteins ; Lysosomal Membrane Proteins ; CLN5 protein, human
    Language English
    Publishing date 2023-12-18
    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.2023.103291
    Database MEDical Literature Analysis and Retrieval System OnLINE

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