Mutations in the palmitoyl-protein thioesterase gene ( PPT ; CLN1 ) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

By Taschner P.E.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 291-297

Oxford University Press

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Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

By Lehtovirta M.  

Human Molecular Genetics, Vol. 10, Iss. 1, 2001-01 ,pp. : 69-75

Oxford University Press

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Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

By Steinfeld Robert  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2483-2491

Oxford University Press

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A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis

By Kitzmller Claudia   Haines Rebecca L.   Codlin Sandra   Cutler Daniel F.   Mole Sara E.  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 303-312

Oxford University Press

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A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

By Kopra Outi  

Human Molecular Genetics, Vol. 13, Iss. 23, 2004-12 ,pp. : 2893-2906

Oxford University Press

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