A Mouse Model of Classical Late-Infantile Neuronal Ceroid Lipofuscinosis Based on Targeted Disruption of the CLN2 Gene Results in a Loss of Tripeptidyl-Peptidase I Activity and Progressive Neurodegeneration

Targeted Disruption ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase ◽

Progressive Neurodegeneration

Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis

PLoS ONE ◽

10.1371/journal.pone.0192286 ◽

2018 ◽

Vol 13 (2) ◽

pp. e0192286 ◽

Cited By ~ 3

Author(s):

Yuliya Nemtsova ◽

Jennifer A. Wiseman ◽

Mukarram El-Banna ◽

Peter Lobel ◽

David E. Sleat

Keyword(s):

Mouse Model ◽

Transgenic Expression ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase

Systemic Administration of Tripeptidyl Peptidase I in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis: Effect of Glycan Modification

PLoS ONE ◽

10.1371/journal.pone.0040509 ◽

2012 ◽

Vol 7 (7) ◽

pp. e40509 ◽

Cited By ~ 26

Author(s):

Yu Meng ◽

Istvan Sohar ◽

Lingling Wang ◽

David E. Sleat ◽

Peter Lobel

Keyword(s):

Mouse Model ◽

Systemic Administration ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase ◽

Glycan Modification

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 ◽

Enzyme Replacement ◽

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Prenatal Diagnosis ◽

10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f ◽

2001 ◽

Vol 21 (2) ◽

pp. 99-101 ◽

Cited By ~ 8

Author(s):

W. J. Kleijer ◽

O. P. van Diggelen ◽

J. L. M. Keulemans ◽

M. Losekoot ◽

V. H. Garritsen ◽

...

Keyword(s):

Mutation Analysis ◽

First Trimester ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase

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 ◽

Gabaergic Interneurons ◽

Knockout Mouse Model ◽

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 ◽

Brain Barrier ◽

Ceroid Lipofuscinosis ◽

Blood Brain

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 ◽

Behavioral Outcomes ◽

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 ◽

Immediate Early Genes ◽

Immediate Early ◽

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

Molecular Therapy ◽

10.1016/j.ymthe.2005.06.429 ◽

2005 ◽

Vol 11 ◽

pp. S166

Keyword(s):

Mouse Model ◽

Lysosomal Storage ◽

Ceroid Lipofuscinosis ◽

Cns Delivery

The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2004.04.142 ◽

2004 ◽

Vol 319 (1) ◽

pp. 58-65 ◽

Cited By ~ 16

Author(s):

Sharmila Kopan ◽

Uthayatharsini Sivasubramaniam ◽

Michael J Warburton

Keyword(s):

Lysosomal Degradation ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase ◽

Neuromedin B