CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

By van der Zee Julie   Urwin Hazel   Engelborghs Sebastiaan   Bruyland Marc   Vandenberghe Rik   Dermaut Bart   De Pooter Tim   Peeters Karin   Santens Patrick   De Deyn Peter P.   Fisher Elizabeth M.   Collinge John   Isaacs Adrian M.   Van Broeckhoven Christine  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 313-322

Oxford University Press

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Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann–Pick type C disease

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Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 257-272

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

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Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2149-2165

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Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

By Lupo Vincenzo   Galindo Mximo I.   Martnez-Rubio Dolores   Sevilla Teresa   Vlchez Juan J.   Palau Francesc   Espins Carmen  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4603-4614

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Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

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Human Molecular Genetics, Vol. 19, Iss. 11, 2010-06 ,pp. : 2239-2250

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