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  1. Article ; Online: Reply: ATP10B variants in Parkinson's disease-a large cohort study in Chinese mainland population.

    Smolders, Stefanie / Van Broeckhoven, Christine

    Acta neuropathologica

    2021  Volume 141, Issue 5, Page(s) 807–808

    MeSH term(s) China ; Cohort Studies ; Glucosylceramides ; Humans ; Lysosomes ; Parkinson Disease/genetics
    Chemical Substances Glucosylceramides
    Language English
    Publishing date 2021-02-18
    Publishing country Germany
    Document type Letter ; Comment
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-021-02281-8
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  2. Article ; Online: Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.

    Cacace, Rita / Van Broeckhoven, Christine

    Acta neuropathologica

    2021  Volume 141, Issue 4, Page(s) 625–626

    MeSH term(s) Alzheimer Disease/genetics ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; European Continental Ancestry Group/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Nerve Tissue Proteins/genetics ; Potassium Channels/genetics ; United States
    Chemical Substances Nerve Tissue Proteins ; Potassium Channels ; DPP6 protein, human (EC 3.4.-) ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases (EC 3.4.14.-)
    Language English
    Publishing date 2021-02-16
    Publishing country Germany
    Document type Journal Article ; Comment
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-021-02277-4
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  3. Article ; Online: The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.

    Bossaerts, Liene / Cacace, Rita / Van Broeckhoven, Christine

    Molecular neurodegeneration

    2022  Volume 17, Issue 1, Page(s) 31

    Abstract: Background: Alzheimer's disease (AD) is the leading cause of dementia, clinically characterized by memory deficits and progressive cognitive decline. Despite decades of research effective therapies are lacking, and a large part of the genetic ... ...

    Abstract Background: Alzheimer's disease (AD) is the leading cause of dementia, clinically characterized by memory deficits and progressive cognitive decline. Despite decades of research effective therapies are lacking, and a large part of the genetic heritability remains unidentified. ABCA7 and ABCA1, members of the ATP-binding cassette subfamily A (ABCA), were identified as AD risk genes in genome-wide association studies. Nevertheless, genetic and/or functional studies propose a link between AD and two other members of the ABCA subclass, i.e., ABCA2 and ABCA5.
    Main body: Changes in expression or dysfunction of these transporters were found to increase amyloid β levels. This might be related to the common role of ABCA transporters in cellular cholesterol homeostasis, for which a prominent role in AD development has been suggested. In this review, we provide a comprehensive overview and discussion on the contribution of the ABCA subfamily to the etiopathogenesis of AD.
    Conclusions: A better understanding of the function and identification of disease-associated genetic variants in ABCA transporters can contribute to the development of novel therapeutic strategies for AD.
    MeSH term(s) ATP Binding Cassette Transporter, Subfamily A/genetics ; ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette Transporters/metabolism ; Adenosine Triphosphate ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Genome-Wide Association Study ; Humans
    Chemical Substances ATP Binding Cassette Transporter, Subfamily A ; ATP-Binding Cassette Transporters ; Amyloid beta-Peptides ; Adenosine Triphosphate (8L70Q75FXE)
    Language English
    Publishing date 2022-04-27
    Publishing country England
    Document type Journal Article ; Review ; 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/s13024-022-00536-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

    Smolders, Stefanie / Van Broeckhoven, Christine

    Acta neuropathologica communications

    2020  Volume 8, Issue 1, Page(s) 63

    Abstract: Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features. Although the majority of patients with PD and APS ... ...

    Abstract Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features. Although the majority of patients with PD and APS appear to be sporadic, genetic causes of several rare monogenic disease variants were identified. The knowledge acquired from these genetic factors indicated that defects in vesicular transport pathways, endo-lysosomal dysfunction, impaired autophagy-lysosomal protein and organelle degradation pathways, α-synuclein aggregation and mitochondrial dysfunction play key roles in PD pathogenesis. Moreover, membrane dynamics are increasingly recognized as a key player in the disease pathogenesis due lipid homeostasis alterations, associated with lysosomal dysfunction, caused by mutations in several PD and APS genes. The importance of lysosomal dysfunction and lipid homeostasis is strengthened by both genetic discoveries and clinical epidemiology of the association between parkinsonism and lysosomal storage disorders (LSDs), caused by the disruption of lysosomal biogenesis or function. A synergistic coordination between vesicular trafficking, lysosomal and mitochondria defects exist whereby mutations in PD and APS genes encoding proteins primarily involved one PD pathway are frequently associated with defects in other PD pathways as a secondary effect. Moreover, accumulating clinical and genetic observations suggest more complex inheritance patters of familial PD exist, including oligogenic and polygenic inheritance of genes in the same or interconnected PD pathways, further strengthening their synergistic connection.Here, we provide a comprehensive overview of PD and APS genes with functions in vesicular transport, lysosomal and mitochondrial pathways, and highlight functional and genetic evidence of the synergistic connection between these PD associated pathways.
    MeSH term(s) Animals ; Humans ; Lysosomes/genetics ; Lysosomes/metabolism ; Mitochondria/genetics ; Mitochondria/metabolism ; Parkinsonian Disorders/genetics ; Parkinsonian Disorders/metabolism ; Parkinsonian Disorders/pathology ; Protein Transport/genetics ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism
    Chemical Substances Vesicular Transport Proteins
    Language English
    Publishing date 2020-05-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-020-00935-4
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  5. Article ; Online: Reply: ATP10B and the risk for Parkinson's disease.

    Smolders, Stefanie / Van Broeckhoven, Christine

    Acta neuropathologica

    2020  Volume 140, Issue 3, Page(s) 403–404

    MeSH term(s) Glucosylceramides ; Humans ; Lysosomes ; Parkinson Disease ; Risk Factors
    Chemical Substances Glucosylceramides
    Language English
    Publishing date 2020-06-15
    Publishing country Germany
    Document type Journal Article ; Comment
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-020-02173-3
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  6. Article ; Online: Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.

    Smolders, Stefanie / Van Broeckhoven, Christine

    Acta neuropathologica

    2020  Volume 140, Issue 5, Page(s) 787–789

    MeSH term(s) Family ; Glucosylceramides ; Humans ; Lysosomes ; Parkinson Disease ; Parkinsonian Disorders/genetics ; Pedigree
    Chemical Substances Glucosylceramides
    Language English
    Publishing date 2020-09-05
    Publishing country Germany
    Document type Journal Article ; Comment
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-020-02220-z
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  7. Article: How network-based approaches can complement gene identification studies in frontotemporal dementia.

    Koçoğlu, Cemile / Van Broeckhoven, Christine / van der Zee, Julie

    Trends in genetics : TIG

    2022  Volume 38, Issue 9, Page(s) 944–955

    Abstract: Frontotemporal dementia (FTD) is a primary cause of dementia encompassing a broad range of clinical phenotypes and cellular pathologies. Genetic discoveries in FTD have largely been driven by linkage studies in well-documented extended families, ... ...

    Abstract Frontotemporal dementia (FTD) is a primary cause of dementia encompassing a broad range of clinical phenotypes and cellular pathologies. Genetic discoveries in FTD have largely been driven by linkage studies in well-documented extended families, explaining most of the patients with a known pathogenic mutation. In the context of complex diseases, it is hypothesized that mutations with reduced penetrance or a combination of low-effect size variants with environmental factors drive disease. Furthermore, these genes are likely to be part of the interaction networks of known FTD genes, contributing to converging cellular processes. In this review, we examine gene discovery approaches in FTD and introduce network biology concepts as tools to assist gene identification studies in genetically complex disease.
    MeSH term(s) Frontotemporal Dementia/genetics ; Frontotemporal Dementia/pathology ; Genetic Linkage ; Humans ; Mutation ; Phenotype
    Language English
    Publishing date 2022-05-28
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 619240-3
    ISSN 1362-4555 ; 0168-9525 ; 0168-9479
    ISSN (online) 1362-4555
    ISSN 0168-9525 ; 0168-9479
    DOI 10.1016/j.tig.2022.05.005
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  8. Article ; Online: Novel Alzheimer's disease risk genes: exhaustive investigation is paramount.

    Sleegers, Kristel / Van Broeckhoven, Christine

    Acta neuropathologica

    2019  Volume 138, Issue 2, Page(s) 171–172

    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; LDL-Receptor Related Proteins/genetics ; Membrane Transport Proteins/genetics ; Risk ; Sialic Acid Binding Ig-like Lectin 3/genetics
    Chemical Substances ABCA7 protein, human ; ATP-Binding Cassette Transporters ; Apolipoprotein E4 ; CD33 protein, human ; LDL-Receptor Related Proteins ; Membrane Transport Proteins ; SORL1 protein, human ; Sialic Acid Binding Ig-like Lectin 3
    Language English
    Publishing date 2019-07-12
    Publishing country Germany
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-019-02041-9
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  9. Article ; Online: International view on genetic frontotemporal dementia.

    Wauters, Eline / Van Broeckhoven, Christine

    The Lancet. Neurology

    2019  Volume 19, Issue 2, Page(s) 106–108

    MeSH term(s) Frontotemporal Dementia ; Humans ; Retrospective Studies ; tau Proteins
    Chemical Substances tau Proteins
    Language English
    Publishing date 2019-12-03
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 2081241-3
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(19)30406-5
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  10. Article: Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

    Hoogmartens, Julie / Cacace, Rita / Van Broeckhoven, Christine

    Alzheimer's & dementia (Amsterdam, Netherlands)

    2021  Volume 13, Issue 1, Page(s) e12155

    Abstract: Early-onset Alzheimer's disease (EOAD) is generally known as a dominant disease due to highly penetrant pathogenic mutations in the amyloid precursor protein, presenilin 1 and 2. However, they explain only a fraction of EOAD patients (5% to 10%). ... ...

    Abstract Early-onset Alzheimer's disease (EOAD) is generally known as a dominant disease due to highly penetrant pathogenic mutations in the amyloid precursor protein, presenilin 1 and 2. However, they explain only a fraction of EOAD patients (5% to 10%). Furthermore, only 10% to 15% of EOAD families present with clear autosomal dominant inheritance. Studies showed that only 35% to 60% of EOAD patients have at least one affected first-degree relative. Parent-offspring concordance in EOAD was estimated to be <10%, indicating that full penetrant dominant alleles are not the sole players in EOAD. We aim to summarize current knowledge of rare variants underlying familial and seemingly sporadic Alzheimer's disease (AD) patients. Genetic findings indicate that in addition to the amyloid beta pathway, other pathways are of importance in AD pathophysiology. We discuss the difficulties in interpreting the influence of rare variants on disease onset and we underline the value of carefully selected ethnicity-matched cohorts in AD genetic research.
    Language English
    Publishing date 2021-02-20
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2832898-X
    ISSN 2352-8729
    ISSN 2352-8729
    DOI 10.1002/dad2.12155
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