Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

Human Molecular Genetics

Volumn 18, Issue 6, 2009, Pages 1058-1064

  Ghezzi, Daniele ^a   Viscomi, Carlo ^a   Ferlini, Alessandra ^b   Gualandi, Francesca ^b   Mereghetti, Paolo ^c   Degrandis, Domenico ^d   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d Public Health Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; MUTANT PROTEIN; MYOFIBRILLOGENESIS REGULATOR 1; MYOFIBRILLOGENESIS REGULATOR 1L; MYOFIBRILLOGENESIS REGULATOR 1M; MYOFIBRILLOGENESIS REGULATOR 1S; UNCLASSIFIED DRUG;

ADULT; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL MEMBRANE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC TRANSCRIPTION; GOLGI COMPLEX; HUMAN; HUMAN CELL; MALE; MITOCHONDRIAL INNER MEMBRANE; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; MOTOR DYSFUNCTION; NONHUMAN; PAROXYSMAL NONKINESIGENIC DYSKINESIA; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN VARIANT; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHOREA; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HELA CELLS; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTANT PROTEINS; MUTATION; PEDIGREE; PROTEIN ISOFORMS; PROTEIN SORTING SIGNALS;

EID: 61849106125     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn441     Document Type: Article

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