Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

Cell

Volumn 93, Issue 6, 1998, Pages 973-983

  Casari, Giorgio ^a   De Fusco, Maurizio ^a   Ciarmatori, Sonia ^a   Zeviani, Massimo ^b   Mora, Marina ^b   Fernandez, Patricio ^b,g   De Michele, Giuseppe ^c   Filla, Alessandro ^c   Cocozza, Sergio ^c   Marconi, Roberto ^d   Dürr, Alexandre ^e   Fontaine, Bertrand ^e   Ballabio, Andrea ^a,f  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d MISERICORDIA HOSPITAL   (Italy)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; METALLOPROTEINASE; PARAPLEGIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 16Q; GENE AMPLIFICATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION; SEQUENCE HOMOLOGY;

EID: 0032511186     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81203-9     Document Type: Article

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