Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Nature ◽

10.1038/376584a0 ◽

1995 ◽

Vol 376 (6541) ◽

pp. 584-587 ◽

Author(s):

Jouni Vesa ◽

Elina Hellsten ◽

Linda A. Verkruyse ◽

Laura A. Camp ◽

Juhani Rapola ◽

...

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.

The EMBO Journal ◽

10.1002/j.1460-2075.1996.tb00909.x ◽

1996 ◽

Vol 15 (19) ◽

pp. 5240-5245 ◽

Author(s):

E. Hellsten ◽

J. Vesa ◽

V. M. Olkkonen ◽

A. Jalanko ◽

L. Peltonen

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Lysosomal Targeting ◽

Palmitoyl Protein Thioesterase

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cDNA and Genomic Cloning of Human Palmitoyl-Protein Thioesterase (PPT), the Enzyme Defective in Infantile Neuronal Ceroid Lipofuscinosis

Genomics ◽

10.1006/geno.1996.0292 ◽

1996 ◽

Vol 34 (3) ◽

pp. 317-322 ◽

Author(s):

Julie E. Schriner ◽

Won Yi ◽

Sandra L. Hofmann

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Genomic Cloning ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

Neurobiology of Disease ◽

10.1016/j.nbd.2004.02.010 ◽

2004 ◽

Vol 16 (2) ◽

pp. 346-359 ◽

Author(s):

Ellen Bible ◽

Praveena Gupta ◽

Sandra L Hofmann ◽

Jonathan D Cooper

Keyword(s):

Mouse Model ◽

Mutant Mouse ◽

Neuronal Ceroid Lipofuscinosis ◽

Null Mutant ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase ◽

Null Mutant Mouse

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cDNA and Genomic Cloning of Human Palmitoyl-Protein Thioesterase (PPT), the Enzyme Defective in Infantile Neuronal Ceroid Lipofuscinosis

Genomics ◽

10.1006/geno.1996.0658 ◽

1996 ◽

Vol 38 (3) ◽

pp. 458 ◽

Author(s):

Julie E. Schriner ◽

Won Yi ◽

Sandra L. Hofmann

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Genomic Cloning ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ◽

10.1016/s0925-4439(97)00033-1 ◽

1997 ◽

Vol 1361 (1) ◽

pp. 1-5 ◽

Author(s):

Linda A Verkruyse ◽

Marvin R Natowicz ◽

Sandra L Hofmann

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Cell Disease ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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Enzymatic and Molecular Biological Analysis of Palmitoyl Protein Thioesterase Deficiency in Infantile Neuronal Ceroid Lipofuscinosis

Journal of Neurochemistry ◽

10.1046/j.1471-4159.1998.71010323.x ◽

2002 ◽

Vol 71 (1) ◽

pp. 323-329 ◽

Author(s):

Seongeun Cho ◽

Glyn Dawson

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Biological Analysis ◽

Ceroid Lipofuscinosis ◽

Molecular Biological Analysis ◽

Palmitoyl Protein Thioesterase

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Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: Implications for early loss of vision in infantile neuronal ceroid lipofuscinosis

Gene ◽

10.1016/s0378-1119(99)00050-5 ◽

1999 ◽

Vol 231 (1-2) ◽

pp. 203-211 ◽

Author(s):

Zhongjian Zhang ◽

Asim K. Mandal ◽

Nadia Wang ◽

Catherine L. Keck ◽

Drazen B. Zimonjic ◽

...

Keyword(s):

Gene Expression ◽

Mouse Brain ◽

Neuronal Ceroid Lipofuscinosis ◽

Loss Of Vision ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Developing Mouse Brain ◽

Palmitoyl Protein Thioesterase

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Palmitoyl-Protein Thioesterase and the Molecular Pathogenesis of Infantile Neuronal Ceroid Lipofuscinosis

Neuropediatrics ◽

10.1055/s-2007-973661 ◽

1997 ◽

Vol 28 (01) ◽

pp. 27-30 ◽

Author(s):

Sandra Hofmann ◽

Laura Lee ◽

Jui-Yun Lu ◽

Linda Verkruyse

Keyword(s):

Neuronal Ceroid Lipofuscinosis ◽

Molecular Pathogenesis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.080508097 ◽

2000 ◽

Vol 97 (9) ◽

pp. 4573-4578 ◽

Author(s):

J. J. Bellizzi ◽

J. Widom ◽

C. Kemp ◽

J.-Y. Lu ◽

A. K. Das ◽

...

Keyword(s):

Crystal Structure ◽

Molecular Basis ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency

Brain and Development ◽

10.1016/j.braindev.2007.09.008 ◽

2008 ◽

Vol 30 (5) ◽

pp. 370-373 ◽

Author(s):

Kenichi Takano ◽

Masayuki Shimono ◽

Naoki Shiota ◽

Ayako Kato ◽

Shiho Tomioka ◽

...

Keyword(s):

Enzyme Activity ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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