A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition

Human Molecular Genetics

Volumn 15, Issue 24, 2006, Pages 3544-3558

  Tarrade, Anne ^a   Fassier, Coralie ^a   Courageot, Sabrina ^a   Charvin, Delphine ^a,g   Vitte, Jérémie ^a   Peris, Leticia ^b   Thorel, Alain ^c   Mouisel, Etienne ^a   Fonknechten, Nuria ^d   Roblot, Natacha ^a   Seilhean, Danielle ^e   Diérich, Andrée ^f   Hauw, Jean Jacques ^e   Melki, Judith ^a  

^a UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^b CEA GRENOBLE   (France)

^c PSL RESEARCH UNIVERSITY   (France)

^d CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f CNRS   (France)

^g EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

SPASTIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL COMPARTMENTALIZATION; CELL DENSITY; CELL SWELLING; CELL VIABILITY; CONTROLLED STUDY; CYTOPATHOLOGY; EMBRYO; GENE DELETION; GENE MUTATION; IN VITRO STUDY; IN VIVO STUDY; MICROTUBULE; MOLECULAR DYNAMICS; MOUSE; NERVE CELL CULTURE; NERVE FIBER TRANSPORT; NONHUMAN; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; STOP CODON;

ADENOSINE TRIPHOSPHATASES; ANIMALS; AXONS; BASE SEQUENCE; BEHAVIOR, ANIMAL; BIOLOGICAL TRANSPORT; BLOTTING, WESTERN; CELLS, CULTURED; CENTRAL NERVOUS SYSTEM; CEREBRAL CORTEX; EXONS; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MICROTUBULE-ASSOCIATED PROTEINS; MICROTUBULES; MOTOR NEURONS; MUTATION; NEURITES; PROTEIN STRUCTURE, TERTIARY;

EID: 33845353014     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl431     Document Type: Article

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