PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 6, 2009, Pages 548-554

  Regis, Stefano ^a   Grossi, Serena ^a   Corsolini, Fabio ^a   Biancheri, Roberta ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Alternative splicing; Fibroblast; Gene duplication; Gene expression; PLP1; PMD

Indexed keywords

DM20 PROTEIN; ISOPROTEIN; MEMBRANE PROTEIN; PLP PROTEIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMPLICON; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA EXTRACTION; FIBROBLAST; GENE DOSAGE; GENE DUPLICATION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC TRANSCRIPTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MALE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA EXTRACTION; X CHROMOSOME LINKAGE;

ALTERNATIVE SPLICING; FIBROBLASTS; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; HUMANS; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; UP-REGULATION;

EID: 67349110501     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2009.04.002     Document Type: Article

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