Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Nature Communications

Volumn 6, Issue , 2015, Pages

  Thiffault, Isabelle ^a,b,c   Wolf, Nicole I ^d   Forget, Diane ^e   Guerrero, Kether ^a   Tran, Luan T ^a   Choquet, Karine ^f   Lavallée Adam, Mathieu ^g   Poitras, Christian ^e   Brais, Bernard ^f   Yoon, Grace ^h   Sztriha, Laszlo ⁱ   Webster, Richard I ^j   Timmann, Dagmar ^k   Van De Warrenburg, Bart P ^l   Seeger, Jürgen ^m   Zimmermann, Alíz ⁱ   Máté, Adrienn ⁱ   Goizet, Cyril ⁿ   Fung, Eva ^o   Van Der Knaap, Marjo S ^d   Fribourg, Sébastien ^n,p   Vanderver, Adeline ^q,r   Simons, Cas ^s   Taft, Ryan J ^r,s,t   Yates, John R ^g   Coulombe, Benoit ^e,u   Bernard, Geneviève ^a   more..

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g SCRIPPS RESEARCH INSTITUTE   (United States)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ UNIVERSITY OF SZEGED   (Hungary)

^j CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^k UNIVERSITY HOSPITAL ESSEN   (Germany)

^l RADBOUD UNIVERSITY   (Netherlands)

^m DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

ⁿ UNIVERSITÉ DE BORDEAUX   (France)

^o CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^p INSERM U869   (France)

^q CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^r GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^s UNIVERSITY OF QUEENSLAND   (Australia)

^t ILLUMINA INC   (United States)

^u UNIVERSITÉ DE MONTRÉAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE; DNA DIRECTED RNA POLYMERASE III; RNA POLYMERASE; RNA POLYMERASE I C; UNCLASSIFIED DRUG; POLR1C PROTEIN, HUMAN;

ENZYME ACTIVITY; GENE EXPRESSION; MUTATION; NERVOUS SYSTEM DISORDER; PATHOLOGY; PHYSIOLOGICAL RESPONSE; PROTEOMICS; RNA;

ARTICLE; BIOGENESIS; CONTROLLED STUDY; DNA MODIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; HUMAN; HUMAN CELL; LEUKODYSTROPHY; MANDIBULOFACIAL DYSOSTOSIS; NUCLEAR IMPORT; PROTEIN ASSEMBLY; PROTEOMICS; RNA SEQUENCE; DEMYELINATING DISEASE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; PHYSIOLOGY; RECESSIVE GENE;

DNA-DIRECTED RNA POLYMERASES; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HOMOZYGOTE; HUMANS; MUTATION; RNA POLYMERASE III;

EID: 84936804889     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms8623     Document Type: Article

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