Batten Disease: A Typical Neuronal Storage Disease or a Genetic Neurodegenerative Disorder Characterized by Excitotoxicity?

1996 ◽  
pp. 217-224 ◽  
Author(s):  
Steven U. Walkley ◽  
Donald A. Siegel ◽  
Kostantin Dobrenis
Keyword(s):  
Storage Disease ◽  
Neurodegenerative Disorder ◽  
Batten Disease ◽  
Neuronal Storage Disease

Lupus nephritis in a neuronal storage disease

1977 ◽  
Vol 137 (5) ◽  
pp. 693-694 ◽  
Author(s):  
D. A. Feinfeld
Keyword(s):  
Lupus Nephritis ◽  
Storage Disease ◽  
Neuronal Storage Disease

Adult type neuronal storage disease with neuraminidase deficiency

1979 ◽  
Vol 6 (3) ◽  
pp. 232-244 ◽  
Author(s):  
Tadashi Miyatake ◽  
Tetsushi Atsumi ◽  
Taminori Obayashi ◽  
Yoshikuni Mizuno ◽  
Susumu Ando ◽  
...  
Keyword(s):  
Storage Disease ◽  
Adult Type ◽  
Neuronal Storage Disease

Electron Microscopic Findings in Skin Biopsies from Patients with Infantile Osteopetrosis and Neuronal Storage Disease

2007 ◽  
Vol 31 (5) ◽  
pp. 333-338 ◽  
Author(s):  
Joseph Alroy ◽  
Rolf Pfannl ◽  
Angelo Ucci ◽  
Gérard Lefranc ◽  
Annalisa Frattini ◽  
...  
Keyword(s):  
Storage Disease ◽  
Electron Microscopic ◽  
Skin Biopsies ◽  
Microscopic Findings ◽  
Neuronal Storage Disease

scholarly journals Two Motifs Target Batten Disease Protein CLN3 to Lysosomes in Transfected Nonneuronal and Neuronal Cells

2004 ◽  
Vol 15 (3) ◽  
pp. 1313-1323 ◽  
Author(s):  
Aija Kyttälä ◽  
Gudrun Ihrke ◽  
Jouni Vesa ◽  
Michael J. Schell ◽  
J. Paul Luzio
Keyword(s):  
Neurodegenerative Disorder ◽  
Neuronal Cells ◽  
Batten Disease ◽  
Large Loop ◽  
Loop Domain ◽  
Neuronal Processes ◽  
Disease Protein ◽  
Lysosomal Targeting ◽  
Optimal Efficiency ◽  
Polytopic Membrane Protein

Batten disease is a neurodegenerative disorder resulting from mutations in CLN3, a polytopic membrane protein, whose predominant intracellular destination in nonneuronal cells is the lysosome. The topology of CLN3 protein, its lysosomal targeting mechanism, and the development of Batten disease are poorly understood. We provide experimental evidence that both the N and C termini and one large loop domain of CLN3 face the cytoplasm. We have identified two lysosomal targeting motifs that mediate the sorting of CLN3 in transfected nonneuronal and neuronal cells: an unconventional motif in the long C-terminal cytosolic tail consisting of a methionine and a glycine separated by nine amino acids [M(X)9G], and a more conventional dileucine motif, located in the large cytosolic loop domain and preceded by an acidic patch. Each motif on its own was sufficient to mediate lysosomal targeting, but optimal efficiency required both. Interestingly, in primary neurons, CLN3 was prominently seen both in lysosomes in the cell body and in endosomes, containing early endosomal antigen-1 along neuronal processes. Because there are few lysosomes in axons and peripheral parts of dendrites, the presence of CLN3 in endosomes of neurons may be functionally important. Endosomal association of the protein was independent of the two lysosomal targeting motifs.

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