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

Author： Tian Guoling   Jaglin Xavier H.   Keays David A.   Francis Fiona   Chelly Jamel   Cowan Nicholas J.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.19, Iss.18, 2010-09, pp. : 3599-3613

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

PTHR1 mutations associated with Ollier disease result in receptor loss of function

By Couvineau Alain   Wouters Vinciane   Bertrand Guylne   Rouyer Christiane   Grard Bndicte   Boon Laurence M.   Grandchamp Bernard   Vikkula Miikka   Silve Caroline  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2766-2775

Oxford University Press

Access to resources Recommend Favorite

Mutations in the neuronal -tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

By Poirier Karine   Saillour Yoann   Bahi-Buisson Nadia   Jaglin Xavier H.   Fallet-Bianco Catherine   Nabbout Rima   Castelnau-Ptakhine Laetitia   Roubertie Agathe   Attie-Bitach Tania   Desguerre Isabelle   Genevieve David   Barnerias Christine   Keren Boris   Lebrun Nicolas   Boddaert Nathalie   Encha-Razavi Frcht   Chelly Jamel  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4462-4473

Oxford University Press

Access to resources Recommend Favorite

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

By Schäfer M.   Brümmendorf T.   de Angelis E.   Watkins A.   Kenwrick S.  

Human Molecular Genetics, Vol. 11, Iss. 1, 2002-01 ,pp. : 1-12

Oxford University Press

Access to resources Recommend Favorite

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

By Kumar Ravinesh A.   Pilz Daniela T.   Babatz Timothy D.   Cushion Thomas D.   Harvey Kirsten   Topf Maya   Yates Laura   Robb Stephanie   Uyanik Gkhan   Mancini Gracia M.S.   Rees Mark I.   Harvey Robert J.   Dobyns William B.  

Human Molecular Genetics, Vol. 19, Iss. 14, 2010-07 ,pp. : 2817-2827

Oxford University Press

Access to resources Recommend Favorite

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1

By Sim Chou Hung   Lio Daisy Sio Seng   Mok Su San   Masters Colin L.   Hill Andrew F.   Culvenor Janetta G.   Cheng Heung-Chin  

Human Molecular Genetics, Vol. 15, Iss. 21, 2006-11 ,pp. : 3251-3262

Oxford University Press

Access to resources Recommend Favorite