Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia

By Chen X.J.  

Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1835-1843

Oxford University Press

Access to resources Recommend Favorite

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

By Suga E.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1671-1687

Oxford University Press

Access to resources Recommend Favorite

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

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

By Hadano Shinji   Benn Susanna C.   Otomo Asako   Sudo Katsuko   Kunita Ryota   Suzuki-Utsunomiya Kyoko   Mizumura Hikaru   Shefner Jeremy M.   Cox Gregory A.   Iwakura Yoichiro   Brown Robert H.   Ikeda Joh-E  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 233-250

Oxford University Press

Access to resources Recommend Favorite

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

By Mowat D.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1503-1510

Oxford University Press

Access to resources Recommend Favorite