Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Molecular Brain

Volumn 10, Issue 1, 2017, Pages

  Choquet, Karine ^a,b,c   Yang, Sharon ^a   Moir, Robyn D ^d   Forget, Diane ^e   Larivière, Roxanne ^a   Bouchard, Annie ^e   Poitras, Christian ^e   Sgarioto, Nicolas ^a   Dicaire, Marie Josée ^a   Noohi, Forough ^a,b   Kennedy, Timothy E ^a   Rochford, Joseph ^f   Bernard, Geneviève ^b,g,h   Teichmann, Martin ⁱ   Coulombe, Benoit ^e,j   Willis, Ian M ^d   Kleinman, Claudia L ^b,c   Brais, Bernard ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g MONTREAL CHILDREN S HOSPITAL   (Canada)

^h RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

ⁱ UNIVERSITÉ DE BORDEAUX   (France)

^j UNIVERSITÉ DE MONTRÉAL   (Canada)

more..

Author keywords

Hypomyelination; Leukodystrophy; Mouse model; POLR3A; RNA Polymerase III; Transfer RNAs

Indexed keywords

DNA DIRECTED RNA POLYMERASE III;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY EQUILIBRIUM; CELL LOSS; CEREBELLUM ATROPHY; CHROMATIN IMMUNOPRECIPITATION; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GAIT; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HYPOMYELINATING LEUKODYSTROPHY; KNOCKOUT MOUSE; LEUKODYSTROPHY; LOCOMOTION; MOTOR PERFORMANCE; MOUSE; MUSCLE STRENGTH; NEUROLOGIC DISEASE; NONHUMAN; NULL ALLELE; PHENOTYPE; POLR3A GENE; PURKINJE CELL; RNA TRANSCRIPTION; SEQUENCE ANALYSIS; UPREGULATION; WESTERN BLOTTING; ANIMAL; C57BL MOUSE; CEREBELLUM; DEMYELINATING DISEASE; GENE TARGETING; GENETIC TRANSCRIPTION; GENETICS; HOMOZYGOTE; METABOLISM; MOTOR ACTIVITY; MUTATION; MYELIN SHEATH; PATHOLOGY; PATHOPHYSIOLOGY;

ANIMALS; CEREBELLUM; GENE KNOCK-IN TECHNIQUES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HOMOZYGOTE; HUMANS; MICE, INBRED C57BL; MICE, KNOCKOUT; MOTOR ACTIVITY; MUTATION; MYELIN SHEATH; PURKINJE CELLS; RNA POLYMERASE III; TRANSCRIPTION, GENETIC;

EID: 85018469444     PISSN: None     EISSN: 17566606     Source Type: Journal    
DOI: 10.1186/s13041-017-0294-y     Document Type: Article

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