Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Brain

Volumn 136, Issue 10, 2013, Pages 3119-3139

  Vantaggiato, Chiara ^a   Crimella, Claudia ^a   Airoldi, Giovanni ^a   Polishchuk, Roman ^b   Bonato, Sara ^a,i   Brighina, Erika ^a   Scarlato, Marina ^c   Musumeci, Olimpia ^d   Toscano, Antonio ^d   Martinuzzi, Andrea ^a   Santorelli, Filippo Maria ^e   Ballabio, Andrea ^b,f,g,h   Bresolin, Nereo ^a,i   Clementi, Emilio ^a,i   Bassi, Maria Teresa ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

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

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

^e DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ UNIVERSITY OF MILAN   (Italy)

Author keywords

autophagosome maturation; autophagy; Beclin 1; spastizin; SPG15

Indexed keywords

BECLIN 1; LEUCINE ZIPPER PROTEIN; MULTIPROTEIN COMPLEX; SPASTIZIN PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; CELL MATURATION; CELL VACUOLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CORPUS CALLOSUM; CYTOSOL; EMBRYO; ENDOSOME; EXON; FIBROBLAST; GENE SILENCING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LYMPHOBLAST; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

EID: 84884832754     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt227     Document Type: Article

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