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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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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Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

By Sharifi A.   Kousi M.   Sagn C.   Bellenchi G.C.   Morel L.   Darmon M.   Hlkov H.   Ruivo R.   Debacker C.   El Mestikawy S.   Elleder M.   Lehesjoki A.-E.   Jalanko A.   Gasnier B.   Kyttl A.  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4497-4514

Oxford University Press

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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

By Isosomppi J.  

Human Molecular Genetics, Vol. 11, Iss. 8, 2002-04 ,pp. : 885-891

Oxford University Press

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