427. AAV2- and AAV5-Mediated CNS Delivery of Human CLN2 Reduces Lysosomal Storage in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl–protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.05.009 ◽

2012 ◽

Vol 107 (1-2) ◽

pp. 213-221 ◽

Cited By ~ 26

Author(s):

Jie Hu ◽

Jui-Yun Lu ◽

Andrew M.S. Wong ◽

Linda S. Hynan ◽

Shari G. Birnbaum ◽

...

Keyword(s):

Mouse Model ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Neuronal Ceroid Lipofuscinosis ◽

High Dose ◽

Lysosomal Storage ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Enzyme Replacement ◽

Ceroid Lipofuscinosis ◽

Palmitoyl Protein Thioesterase

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218. Gene Therapy and Enzyme Replacement in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Molecular Therapy ◽

10.1016/j.ymthe.2006.08.243 ◽

2006 ◽

Vol 13 ◽

pp. S84

Author(s):

Michael Chang ◽

David Sleat ◽

Seng Cheng ◽

Marco Passini ◽

Peter Lobel ◽

...

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Enzyme Replacement ◽

Ceroid Lipofuscinosis

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Profound loss of GABAergic interneurons in the PPT1 knockout mouse model of infantile neuronal ceroid lipofuscinosis

Neuropathology and Applied Neurobiology ◽

10.1046/j.1365-2990.2002.39286_29.x ◽

2002 ◽

Vol 28 (2) ◽

pp. 158-159 ◽

Cited By ~ 7

Author(s):

J. D. Cooper ◽

P. Gupta ◽

E. Bible ◽

S. Hofmann ◽

P. Lantos) ◽

...

Keyword(s):

Mouse Model ◽

Knockout Mouse ◽

Neuronal Ceroid Lipofuscinosis ◽

Gabaergic Interneurons ◽

Knockout Mouse Model ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

Human Molecular Genetics ◽

10.1093/hmg/dds038 ◽

2012 ◽

Vol 21 (10) ◽

pp. 2233-2244 ◽

Cited By ~ 41

Author(s):

Arjun Saha ◽

Chinmoy Sarkar ◽

Satya P. Singh ◽

Zhongjian Zhang ◽

Jeeva Munasinghe ◽

...

Keyword(s):

Mouse Model ◽

Blood Brain Barrier ◽

Neuronal Ceroid Lipofuscinosis ◽

Brain Barrier ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Blood Brain

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Intrathecal and intravenous combination gene therapy in the mouse model of infantile neuronal ceroid lipofuscinosis extends lifespan and improves behavioral outcomes in moderately affected mice

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2018.12.149 ◽

2019 ◽

Vol 126 (2) ◽

pp. S63-S64

Author(s):

Steven J. Gray ◽

Alejandra Rozenberg ◽

Erik Lykken ◽

Linas Padegimas ◽

Timothy Miller

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Behavioral Outcomes ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response

BMC Neuroscience ◽

10.1186/1471-2202-8-95 ◽

2007 ◽

Vol 8 (1) ◽

pp. 95 ◽

Cited By ~ 21

Author(s):

Xingwen Qiao ◽

Jui-Yun Lu ◽

Sandra L Hofmann

Keyword(s):

Gene Expression ◽

Inflammatory Response ◽

Mouse Model ◽

Gene Expression Profiling ◽

Expression Profiling ◽

Neuronal Ceroid Lipofuscinosis ◽

Immediate Early Genes ◽

Immediate Early ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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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 ◽

Cited By ~ 121

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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Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

Human Gene Therapy ◽

10.1089/hum.2012.253 ◽

2014 ◽

Vol 25 (3) ◽

pp. 223-239 ◽

Cited By ~ 25

Author(s):

Dolan Sondhi ◽

Emma C. Scott ◽

Alvin Chen ◽

Neil R. Hackett ◽

Andrew M.S. Wong ◽

...

Keyword(s):

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Lysosomal Storage ◽

Adeno Associated Virus ◽

Juvenile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Virus Serotype ◽

Partial Correction

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Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Molecular Therapy ◽

10.1038/mt.2008.9 ◽

2008 ◽

Vol 16 (4) ◽

pp. 649-656 ◽

Cited By ~ 109

Author(s):

Michael Chang ◽

Jonathan D Cooper ◽

David E Sleat ◽

Seng H Cheng ◽

James C Dodge ◽

...

Keyword(s):

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Enzyme Replacement ◽

Disease Phenotypes ◽

Ceroid Lipofuscinosis

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Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2017.12.338 ◽

2018 ◽

Vol 123 (2) ◽

pp. S124 ◽

Cited By ~ 2

Author(s):

Alejandra J. Rozenberg ◽

Erik Lykken ◽

Kaye Spratt ◽

Timothy J. Miller ◽

Steven J. Gray

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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