EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Nature Communications

Volumn 5, Issue , 2014, Pages

  Boczonadi, Veronika ^a   Müller, Juliane S ^a   Pyle, Angela ^a   Munkley, Jennifer ^a   Dor, Talya ^b   Quartararo, Jade ^c   Ferrero, Ileana ^c   Karcagi, Veronika ^d   Giunta, Michele ^a   Polvikoski, Tuomo ^a   Birchall, Daniel ^e   Princzinger, Agota ^f   Cinnamon, Yuval ^b,g   Lützkendorf, Susanne ^h   Piko, Henriett ^d   Reza, Mojgan ^a   Florez, Laura ⁱ   Santibanez Koref, Mauro ^a   Griffin, Helen ^a   Schuelke, Markus ^h   Elpeleg, Orly ^b   Kalaydjieva, Luba ⁱ   Lochmüller, Hanns ^a   Elliott, David J ^a   Chinnery, Patrick F ^a   Edvardson, Shimon ^b   Horvath, Rita ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF PARMA   (Italy)

^d NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^e Neuroradiology Department Regional Neurosciences Centre   (United Kingdom)

^f Josa Andras Hospital   (Hungary)

^g VOLCANI CENTER   (Israel)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁱ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; EXOSC8 PROTEIN; MESSENGER RNA; MYELIN BASIC PROTEIN; UNCLASSIFIED DRUG; EXOSC8 PROTEIN, HUMAN; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FUNGAL PROTEIN; RNA BINDING PROTEIN;

DISEASE INCIDENCE; GROWTH RATE; METABOLISM; MUTATION; NERVOUS SYSTEM DISORDER; PROTEIN; RNA;

ANIMAL CELL; ARTICLE; AUTOPSY; CEREBELLUM HYPOPLASIA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE COURSE; DOWN REGULATION; EMBRYO; EXOSOME; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOMYELINATION; INFANT; MISSENSE MUTATION; MOTOR NEURON DISEASE; MUSCLE BIOPSY; MYELINATION; NEUROPATHOLOGY; NONHUMAN; OLIGODENDROGLIA; PEDIGREE; PROTEIN FUNCTION; RNA METABOLISM; SPINAL MUSCULAR ATROPHY; ZEBRA FISH; ABNORMALITIES; AMINO ACID SEQUENCE; ANIMAL; BRAIN CORTEX; CEREBELLUM; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE SILENCING; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOTE; MALE; METABOLISM; MOLECULAR GENETICS; NERVOUS SYSTEM MALFORMATION; PATHOLOGY; SYNDROME;

AGENESIS OF CORPUS CALLOSUM; AMINO ACID SEQUENCE; ANIMALS; CEREBELLUM; CEREBRAL CORTEX; DEVELOPMENTAL DISABILITIES; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FEMALE; FUNGAL PROTEINS; GENE EXPRESSION; GENE KNOCKDOWN TECHNIQUES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; NERVOUS SYSTEM MALFORMATIONS; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SYNDROME; ZEBRAFISH;

EID: 84903975963     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms5287     Document Type: Article

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