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  1. Article ; Online: CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.

    Paisán-Ruiz, Coro / Jen, Joanna C

    Brain : a journal of neurology

    2020  Volume 143, Issue 2, Page(s) 386–390

    MeSH term(s) Cerebellar Ataxia ; Cerebellum ; Humans ; Peripheral Nervous System Diseases ; Syndrome ; Vestibular Neuronitis
    Language English
    Publishing date 2020-02-14
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awaa015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.

    Sánchez, Elena / Azcona, Luis J / Paisán-Ruiz, Coro

    Molecular neurobiology

    2018  Volume 55, Issue 8, Page(s) 6734–6754

    Abstract: This study aimed to gain insights into the pathophysiology underlying PLA2G6-associated neurodegeneration that is implicated in three different neurological disorders, suggesting that other, unknown genetic or environmental factors might contribute to ... ...

    Abstract This study aimed to gain insights into the pathophysiology underlying PLA2G6-associated neurodegeneration that is implicated in three different neurological disorders, suggesting that other, unknown genetic or environmental factors might contribute to its wide phenotypic expression. To accomplish this, we downregulated the function of pla2g6 in the zebrafish nervous system, performed parkinsonism-related phenotypic characterization, and determined the effects of gene regulation upon the loss of pla2g6 function by using RNA sequencing and downstream analyses. Pla2g6 deficiency resulted in axonal degeneration, dopaminergic and motor neuron cell loss, and increased β-synuclein expression. We also observed that many of the identified, differentially expressed genes were implicated in other brain disorders, which might explain the variable phenotypic expression of pla2g6-associated disease, and found that top enriched canonical pathways included those already known or suggested to play a major role in the pathogenesis of Parkinson's disease. Our data support that pla2g6 is relevant for cranial motor development with significant implications in the pathophysiology underlying Parkinson's disease.
    MeSH term(s) Animals ; Apoptosis/drug effects ; Axons/drug effects ; Axons/metabolism ; Axons/pathology ; Base Sequence ; Body Patterning/drug effects ; Brain/drug effects ; Brain/metabolism ; Brain/pathology ; Conserved Sequence ; Dopaminergic Neurons/drug effects ; Dopaminergic Neurons/metabolism ; Dopaminergic Neurons/pathology ; Down-Regulation/drug effects ; Down-Regulation/genetics ; Embryo, Nonmammalian/drug effects ; Embryo, Nonmammalian/metabolism ; Gene Expression Regulation, Developmental/drug effects ; Group VI Phospholipases A2/deficiency ; Group VI Phospholipases A2/genetics ; Group VI Phospholipases A2/metabolism ; Humans ; Larva/drug effects ; Larva/genetics ; Larva/growth & development ; Morpholinos/pharmacology ; Motor Neurons/drug effects ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Nerve Degeneration/pathology ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Zebrafish/embryology ; Zebrafish/metabolism ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics ; beta-Synuclein/metabolism
    Chemical Substances Morpholinos ; RNA, Messenger ; Zebrafish Proteins ; beta-Synuclein ; Group VI Phospholipases A2 (EC 3.1.1.4) ; PLA2G6 protein, human (EC 3.1.1.4) ; Pla2g6 protein, zebrafish (EC 3.1.1.4)
    Language English
    Publishing date 2018-01-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645020-9
    ISSN 1559-1182 ; 0893-7648
    ISSN (online) 1559-1182
    ISSN 0893-7648
    DOI 10.1007/s12035-017-0846-2
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  3. Article ; Online: ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.

    Darvish, Hossein / Azcona, Luis J / Taghavi, Shaghayegh / Firouzabadi, Saghar Ghasemi / Tafakhori, Abbas / Alehabib, Elham / Mohajerani, Fatemeh / Zardadi, Safoura / Paisán-Ruiz, Coro

    Annals of neurology

    2021  Volume 90, Issue 2, Page(s) 319–323

    Abstract: We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a ... ...

    Abstract We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a combination of homozygosity mapping and whole genome sequencing and was shown to impair phagocytosis in zebrafish mutant embryos. The highly conserved variant, absent in healthy individuals and public SNP databases, affected a functional domain of the protein with neuroprotective properties. This study supports the hypothesis that damaged microglia might lead to impairments in the clearance of accumulated and aggregated proteins resulting in parkinsonism. ANN NEUROL 2021;90:319-323.
    MeSH term(s) Animals ; Annexins/genetics ; Female ; Genetic Variation/genetics ; Humans ; Inflammation/diagnosis ; Inflammation/genetics ; Middle Aged ; Parkinsonian Disorders/diagnosis ; Parkinsonian Disorders/genetics ; Pedigree ; Siblings ; Zebrafish
    Chemical Substances Annexins
    Language English
    Publishing date 2021-07-12
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26148
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    Zs.MO 478: Show issues

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  4. Article ; Online: LRRK2 gene variation and its contribution to Parkinson disease.

    Paisán-Ruiz, Coro

    Human mutation

    2009  Volume 30, Issue 8, Page(s) 1153–1160

    Abstract: Mutation in the LRRK2 gene is a known genetic cause of Parkinson disease (PD). However, due to the high frequency in which the most frequent LRRK2 mutation is present and the large size of LRRK2 gene, a complete sequence-based screening of the entire ... ...

    Abstract Mutation in the LRRK2 gene is a known genetic cause of Parkinson disease (PD). However, due to the high frequency in which the most frequent LRRK2 mutation is present and the large size of LRRK2 gene, a complete sequence-based screening of the entire coding region has only been performed by a few researchers. In addition, normal variability in the LRRK2 gene has only been fully assessed in the North American population. Although a complete examination of the entire gene is required to assess the exact contribution of LRRK2 to the etiology of PD, more than 50 variants have been reported to date within the LRRK2 locus. Gene multiplications or deletions have not been reported so far. Here, all LRRK2 variants reported are interpreted and their contribution to the disease is examined.
    MeSH term(s) Founder Effect ; Gene Deletion ; Genetic Carrier Screening ; Genetic Variation ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Mutation ; Parkinson Disease/genetics ; Polymorphism, Genetic ; Protein-Serine-Threonine Kinases/genetics
    Chemical Substances LRRK2 protein, human (EC 2.7.11.1) ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2009-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.21038
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  5. Article ; Online: Common pathogenic pathways in melanoma and Parkinson disease.

    Paisán-Ruiz, Coro / Houlden, Henry

    Neurology

    2010  Volume 75, Issue 18, Page(s) 1653–1655

    Abstract: There is growing evidence in the scientific literature for shared risk and overlapping disease mechanisms in the development of cancer and Parkinson disease (PD). This association has recently been highlighted with respect to melanoma and PD. Therefore, ... ...

    Abstract There is growing evidence in the scientific literature for shared risk and overlapping disease mechanisms in the development of cancer and Parkinson disease (PD). This association has recently been highlighted with respect to melanoma and PD. Therefore, we review and discuss the literature concerning this unexplained link. A striking overlap is observed in the tyrosine and L-dopa biosynthetic pathways suggesting a common disease mechanism associated with these 2 heterogeneous disorders that warrants further investigation.
    MeSH term(s) Brain Neoplasms/etiology ; Brain Neoplasms/metabolism ; Brain Neoplasms/pathology ; Group VI Phospholipases A2/genetics ; Humans ; Levodopa/metabolism ; Melanoma/genetics ; Melanoma/metabolism ; Melanoma/pathology ; Neural Pathways/metabolism ; Neural Pathways/pathology ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Parkinson Disease/pathology ; Tyrosine/metabolism
    Chemical Substances Tyrosine (42HK56048U) ; Levodopa (46627O600J) ; Group VI Phospholipases A2 (EC 3.1.1.4) ; PLA2G6 protein, human (EC 3.1.1.4)
    Language English
    Publishing date 2010-11-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0b013e3181fb4466
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    Zs.MG 18: Show issues
    Zs.MO 374: Show issues

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  6. Article: Whole-exome sequencing associates novel

    Ruiz-Martínez, Javier / Azcona, Luis J / Bergareche, Alberto / Martí-Massó, Jose F / Paisán-Ruiz, Coro

    Neurology. Genetics

    2017  Volume 3, Issue 5, Page(s) e177

    Abstract: Objective: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.: Methods: In this study, ...

    Abstract Objective: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.
    Methods: In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.
    Results: Patients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the
    Conclusions: We conclude that the
    Language English
    Publishing date 2017-08-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000177
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  7. Article: PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

    Karkheiran, Siamak / Shahidi, Gholam Ali / Walker, Ruth H / Paisán-Ruiz, Coro

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2015  Volume 5, Page(s) 317

    Abstract: Background: Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical ... ...

    Abstract Background: Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia-parkinsonism (PLAN-DP).
    Case report: We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles.
    Discussion: PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.
    Language English
    Publishing date 2015-07-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 2674453-3
    ISSN 2160-8288
    ISSN 2160-8288
    DOI 10.7916/D84Q7T4W
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  8. Article ; Online: Whole genome sequencing identifies a novel homozygous exon deletion in the

    Darvish, Hossein / Azcona, Luis J / Tafakhori, Abbas / Ahmadi, Mona / Ahmadifard, Azadeh / Paisán-Ruiz, Coro

    NPJ genomic medicine

    2017  Volume 2

    Abstract: Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct ...

    Abstract Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses. Here, we describe the first exon rearrangement reported in the
    Language English
    Publishing date 2017-06-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2813848-X
    ISSN 2056-7944 ; 2056-7944
    ISSN (online) 2056-7944
    ISSN 2056-7944
    DOI 10.1038/s41525-017-0022-7
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  9. Article: A novel

    Darvish, Hossein / Azcona, Luis J / Alehabib, Elham / Jamali, Faezeh / Tafakhori, Abbas / Ranji-Burachaloo, Sakineh / Jen, Joanna C / Paisán-Ruiz, Coro

    Neurology. Genetics

    2019  Volume 5, Issue 5, Page(s) e356

    Language English
    Publishing date 2019-09-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000356
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  10. Article ; Online: LRRK2: cause, risk, and mechanism.

    Paisán-Ruiz, Coro / Lewis, Patrick A / Singleton, Andrew B

    Journal of Parkinson's disease

    2013  Volume 3, Issue 2, Page(s) 85–103

    Abstract: In 2004 it was first shown that mutations in LRRK2 can cause Parkinson's disease. This initial discovery was quickly followed by the observation that a single particular mutation is a relatively common cause of Parkinson's disease across varied ... ...

    Abstract In 2004 it was first shown that mutations in LRRK2 can cause Parkinson's disease. This initial discovery was quickly followed by the observation that a single particular mutation is a relatively common cause of Parkinson's disease across varied populations. Further genetic investigation has revealed a variety of genetic ties to Parkinson's disease across this gene. These include common alleles with quite broad effects on risk, likely through both alterations at the protein sequence level, and in the context of expression. A great deal of functional characterization of LRRK2 and disease-causing mutations in this protein has occurred over the last 9 years, and considerable progress has been made. Particular attention has been paid to the kinase activity of LRRK2 as a therapeutic target, and while it is no means certain that this is viable target it is likely that this hypothesis will be tested in clinical trials sooner rather than later. We believe that the future goals for LRRK2 research are, while challenging, relatively clear and that the next 10 years of research promises to be perhaps more exciting than the last.
    MeSH term(s) Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Mutation/genetics ; Parkinson Disease/etiology ; Parkinson Disease/genetics ; Protein Serine-Threonine Kinases/genetics
    Chemical Substances LRRK2 protein, human (EC 2.7.11.1) ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2013-08-28
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2620609-2
    ISSN 1877-718X ; 1877-7171
    ISSN (online) 1877-718X
    ISSN 1877-7171
    DOI 10.3233/JPD-130192
    Database MEDical Literature Analysis and Retrieval System OnLINE

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