Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL

By Kim Sung-Jo   Zhang Zhongjian   Lee Yi-Ching   Mukherjee Anil B.  

Human Molecular Genetics, Vol. 15, Iss. 10, 2006-05 ,pp. : 1580-1586

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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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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Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

By Das A.K.   Lu J-Y.   Hofmann S.L.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1431-1439

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Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress

By Liu Yan   Wang Yin   Wu Cindy   Liu Yang   Zheng Pan  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2622-2631

Oxford University Press

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