Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

Human Molecular Genetics

Volumn 19, Issue 18, 2010, Pages 3599-3613

  Tian, Guoling ^a   Jaglin, Xavier H ^b,c,d,e   Keays, David A ^f   Francis, Fiona ^c,d,e   Chelly, Jamel ^b,c   Cowan, Nicholas J ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b INSTITUT COCHIN   (France)

^c INSERM   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e INSTITUT DU FER À MOULIN   (France)

^f RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; CHAPERONIN; HETERODIMER; MEMBRANE PROTEIN; TUBA1A PROTEIN; TUBULIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BRAIN NERVE CELL; CELL CULTURE; CELL MIGRATION; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; GENOMIC INSTABILITY; GROWTH RATE; IN VITRO STUDY; IN VIVO STUDY; MICROTUBULE ASSEMBLY; MOUSE; NEURITE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN INTERACTION; PROTEIN STABILITY;

ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; DIMERIZATION; HUMANS; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICE; MOLECULAR CONFORMATION; MUTATION; MUTATION, MISSENSE; PROTEIN FOLDING; PROTEIN STABILITY; TUBULIN;

EID: 77956124765     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq276     Document Type: Article

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