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

Journal of Neuroscience

Volumn 24, Issue 41, 2004, Pages 9117-9126

  Sleat, David E ^a,b   Wiseman, Jennifer A ^a   El Banna, Mukarram ^a   Kim, Kwi Hye ^a   Mao, Qinwen ^c   Price, Sandy ^a   Macauley, Shannon L ^d   Sidman, Richard L ^e   Shen, Michael M ^a,b   Zhao, Qi ^d   Passini, Marco A ^d   Davidson, Beverly L ^c   Stewart, Gregory R ^d,f   Lobel, Peter ^a,b  

^a RUTGERS UNIVERSITY   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d GENZYME CORPORATION   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f MEDTRONIC INC   (United States)

Author keywords

Cerebellum; Degeneration; Enzyme; Epilepsy; Lysosome; Neuropathology; Proteolysis

Indexed keywords

LYSOSOME ENZYME; MESSENGER RNA; SERINE PROTEINASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ANIMAL MODEL; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM DISEASE; CLN2 GENE; DEGENERATIVE DISEASE; DISEASE COURSE; EPILEPSY; GENE; GENE MUTATION; HISTOLOGY; IMMUNOHISTOCHEMISTRY; INFANT DISEASE; LIFESPAN; LYSOSOME; MOUSE; NERVE CELL NECROSIS; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TREMOR;

ANIMALS; ATAXIA; BRAIN; CELLS, CULTURED; CLONE CELLS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; ENDOPEPTIDASES; ENDOSOMES; FEMALE; GENE TARGETING; LYSOSOMES; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MOTOR ACTIVITY; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; PEPTIDE HYDROLASES; PHENOTYPE; PURKINJE CELLS; SEIZURES; SURVIVAL RATE; TREMOR;

EID: 5644241723     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2729-04.2004     Document Type: Article

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