Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

Aged Amyotrophic Lateral Sclerosis / genetics Animals Australia Blotting, Western Brain / pathology Female Fluorescent Antibody Technique Frontotemporal Dementia / genetics Genetic Variation / genetics Humans Male Mice Mice, Transgenic Middle Aged Mitochondrial Proteins / genetics Motor Cortex / pathology Spinal Cord / pathology Exome Sequencing Whole Genome Sequencing
amyotrophic lateral sclerosis coiled-coil-helix-coiled-coil-helix domain containing 10 protein neurogenetics neuropathology

Journal

Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R

Informations de publication

Date de publication:
02 2020
Historique:
received: 05 08 2019
revised: 20 09 2019
accepted: 07 10 2019
pubmed: 7 11 2019
medline: 8 7 2020
entrez: 7 11 2019
Statut: ppublish

Résumé

Since the first report of Whole-exome and whole-genome sequencing data from 81 familial and 635 sporadic ALS, and 108 sporadic FTD cases, were assessed for genetic variation in No causal, novel or disease-associated variants in Genetic variation in

Identifiants

DOI: 10.1136/jnnp-2019-321790 PMID: 31690696
pubmed: 31690696
pii: jnnp-2019-321790
doi: 10.1136/jnnp-2019-321790
doi:

Substances chimiques

CHCHD10 protein, human 0
Mitochondrial Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

162-171

Subventions

Organisme : NIAAA NIH HHS
ID : R28 AA012725
Pays : United States

Informations de copyright

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Emily P McCann (EP)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0002-8200-3525

Jennifer A Fifita (JA)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0002-0814-0118

Natalie Grima (N)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0001-6434-7706

Jasmin Galper (J)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Prachi Mehta (P)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Sarah E Freckleton (SE)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Katharine Y Zhang (KY)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Lyndal Henden (L)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0001-5541-7637

Alison L Hogan (AL)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0002-5987-0639

Sandrine Chan Moi Fat (S)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Sharlynn Sl Wu (SS)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Cyril J Jagaraj (CJ)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0002-5937-5208

Britt A Berning (BA)

Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.

Kelly Louise Williams (KL)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0001-6319-9473

Natalie A Twine (NA)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, New South Wales, Australia.

Denis Bauer (D)

Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, New South Wales, Australia.

Olivier Piguet (O)

Brain and Mind Centre & Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

John Hodges (J)

Brain and Mind Centre & Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

John B J Kwok (JBJ)

Brain and Mind Centre & Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Glenda M Halliday (GM)

Brain and Mind Centre & Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Matthew C Kiernan (MC)

Brain and Mind Centre & Central Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Julie Atkin (J)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Dominic B Rowe (DB)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

Garth A Nicholson (GA)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia.

Adam K Walker (AK)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.

Ian P Blair (IP)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia ian.blair@mq.edu.au.
ORCID: 0000-0003-3083-0075

Shu Yang (S)

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
ORCID: 0000-0002-4847-9263

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Genetic and immunopathological analysis of...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Genetic and immunopathological analysis of...
questionsmedicales.fr › Eucaryotes › Animaux › Genetic and immunopathological analysis of...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › Genetic and immunopathological analysis of...
questionsmedicales.fr › Techniques d'investigation › Techniques de sonde moléculaire › Dosage immunologique › Immunotransfert › Technique de Western › Genetic and immunopathological analysis of...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Genetic and immunopathological analysis of...
questionsmedicales.fr › Techniques d'investigation › Techniques immunologiques › Technique d'immunofluorescence › Genetic and immunopathological analysis of...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Genetic and immunopathological analysis of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Genetic and immunopathological analysis of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic and immunopathological analysis of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Genetic and immunopathological analysis of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Genetic and immunopathological analysis of...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genetic and immunopathological analysis of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Genetic and immunopathological analysis of...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Cerveau › Cortex cérébral › Cortex sensorimoteur › Cortex moteur › Genetic and immunopathological analysis of...
questionsmedicales.fr › Système nerveux › Système nerveux central › Moelle spinale › Genetic and immunopathological analysis of...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Genetic and immunopathological analysis of...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Genetic and immunopathological analysis of...