Infantile neuronal ceroid lipofuscinosis: Isolation of storage material

Neurology ◽  
1982 ◽  
Vol 32 (9) ◽  
pp. 1035-1035 ◽  
Author(s):  
J. Palo ◽  
I. Elovaara ◽  
M. Haltia ◽  
N. M. K. Ng Ying Kin ◽  
L. S. Wolfe
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Storage Material ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material

2010 ◽  
Vol 428 (3) ◽  
pp. 355-362 ◽  
Author(s):  
Su Xu ◽  
David E. Sleat ◽  
Michel Jadot ◽  
Peter Lobel
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Subcellular Fractionation ◽  
Acidic Protein ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Lysosomal Protease ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase

Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease of children caused by mutations in TPP1, the gene encoding the lysosomal protease tripeptidyl peptidase 1. LINCL is characterized by lysosomal accumulation of storage material of which only a single protein component, subunit c of mitochondrial ATP synthase, has been well established to date. Identification of other protein constituents of the storage material could provide useful insights into the pathophysiology of disease and the natural substrates for TPP1. We have therefore initiated a proteomic analysis of storage material in brain from a LINCL mouse model. One protein, GFAP (glial fibrillary acidic protein), was found to be elevated in the LINCL mice compared with normal controls in both isolated storage bodies and a lysosome-enriched subcellular fraction that contains storage material. To determine whether GFAP accumulates within the lysosome in LINCL, we examined its intracellular distribution using subcellular fractionation and morphological methods. These experiments demonstrate that GFAP is not a component of the storage material in LINCL, suggesting that reports of GFAP storage in other NCLs may need to be re-examined. A number of other proteins were elevated in the storage material and/or lysosome-enriched fraction from the LINCL mice, but it remains unclear whether these proteins are true constituents of the storage material or, like GFAP, whether they associate with this material upon purification.

A murine model of infantile neuronal ceroid lipofuscinosis - Ultrastructural evaluation of storage in the central nervous system and viscera

2006 ◽  
Vol preprint (2007) ◽  
pp. 1
Author(s):  
Nancy Galvin ◽  
Carole Vogler ◽  
Beth Levy ◽  
Attila Kovacs ◽  
Megan Griffey ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Murine Model ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
The Central Nervous System

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

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

scholarly journals Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

1999 ◽  
Vol 19 (7) ◽  
pp. 685-688 ◽  
Author(s):  
Juhani Rapola ◽  
Jaana Lähdetie ◽  
Juha Isosomppi ◽  
Päivi Helminen ◽  
Maila Penttinen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis

2011 ◽  
Vol 10 (7) ◽  
pp. 798-804 ◽  
Author(s):  
D. N. Sanders ◽  
S. Kanazono ◽  
F. A. Wininger ◽  
R. E. H. Whiting ◽  
C. A. Flournoy ◽  
...  
Keyword(s):  
Reversal Learning ◽  
Cognitive Deficits ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Learning Task ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis

Genomics ◽  
1993 ◽  
Vol 16 (3) ◽  
pp. 720-725 ◽  
Author(s):  
Elina Hellsten ◽  
Jouni Vesa ◽  
Marcy C. Speer ◽  
Tomi P. Mäkelä ◽  
Irma Järvelä ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Multipoint Analysis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

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

2001 ◽  
Vol 21 (2) ◽  
pp. 99-101 ◽  
Author(s):  
W. J. Kleijer ◽  
O. P. van Diggelen ◽  
J. L. M. Keulemans ◽  
M. Losekoot ◽  
V. H. Garritsen ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
First Trimester ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Tripeptidyl Peptidase
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