Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Nature Genetics

Volumn 44, Issue 6, 2012, Pages 704-708

  Wan, Jijun ^a   Yourshaw, Michael ^a   Mamsa, Hafsa ^a   Rudnik Schöneborn, Sabine ^b   Menezes, Manoj P ^c   Hong, Ji Eun ^a   Leong, Derek W ^a,r   Senderek, Jan ^b   Salman, Michael S ^d,e   Chitayat, David ^f,g   Seeman, Pavel ^h   Von Moers, Arpad ⁱ   Graul Neumann, Luitgard ^j   Kornberg, Andrew J ^k   Castro Gago, Manuel ^l   Sobrido, María Jesús ^l,m   Sanefuji, Masafumi ⁿ   Shieh, Perry B ^a   Salamon, Noriko ^o   Kim, Ronald C ^p,q   Vinters, Harry V ^a,o   Chen, Zugen ^a   Zerres, Klaus ^b   Ryan, Monique M ^k   Nelson, Stanley F ^a,o   Jen, Joanna C ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

^e UNIVERSITY OF MANITOBA   (Canada)

^f MOUNT SINAI HOSPITAL   (Canada)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h CHARLES UNIVERSITY   (Czech Republic)

ⁱ DRK KLINIKEN BERLIN WESTEND   (Germany)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^k UNIVERSITY OF MELBOURNE   (Australia)

^l Instituto de Salud Carlos III   (Spain)

^m CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

ⁿ KYUSHU UNIVERSITY   (Japan)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p UNIVERSITY OF CALIFORNIA   (United States)

^q UNIVERSITY OF CALIFORNIA   (United States)

^r GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RNA; RNA BINDING PROTEIN;

ARTICLE; CASE REPORT; CHILD; EXOSC3 GENE; EXOSOME; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MOTONEURON; NERVE CELL DEGENERATION; NERVOUS SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PONTOCEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; SPINAL CORD;

ANIMALS; CEREBELLUM; EXOSOMES; GENE KNOCKDOWN TECHNIQUES; HUMANS; MOTOR NEURONS; NERVE DEGENERATION; OLIVOPONTOCEREBELLAR ATROPHIES; PONS; RNA; RNA-BINDING PROTEINS; SPINAL NERVES; ZEBRAFISH;

DANIO RERIO;

EID: 84861608931     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2254     Document Type: Article

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