DOI: 10.1016/s0014-5793(96)01290-2. A model for Batten disease protein CLN3: Functional implications from homology and mutations

A model for Batten disease protein CLN3: Functional implications from homology and mutations

10.1016/s0014-5793(96)01290-2

Crossref journal-article

Wiley

FEBS Letters (311)

Abstract

In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949–957) and the site‐specific mutations which give rise to the biological defect. Homology searches and molecular modeling have led to the development of a model for the folding and disposition of the protein, possibly within a mitochondrial membrane. High homology with a yeast protein of unknown function suggests a strong evolutionary conservation of function. We speculate that a possible role for the protein may be in chaperoning the folding/unfolding or assembly/disassembly of other proteins, specifically subunit c of the mitochondrial ATP synthase complex.

Bibliography

Janes, R. W., Munroe, P. B., Mitchison, H. M., Mark Gardiner, R., Mole, S. E., & Wallace, B. A. (1996). A model for Batten disease protein CLN3: Functional implications from homology and mutations. FEBS Letters, 399(1â2), 75â77. Portico.

Authors 6

Robert W. Janes (first)
Patricia B. Munroe (additional)
Hannah M. Mitchison (additional)
R. Mark Gardiner (additional)
Sara E. Mole (additional)
B.A. Wallace (additional)

References 17 Referenced 58

The International Batten Disease Consortium Cell 82 (1995) 949–957. (10.1016/0092-8674(95)90274-0)
10.1016/S0387-7604(88)80075-5
10.1042/bj2680751
{'key': 'e_1_2_1_5_1', 'first-page': '567', 'volume': '42', 'author': 'Palmer D.N.', 'year': '1992', 'journal-title': 'Am. J. Med. Genet.'} / Am. J. Med. Genet. by Palmer D.N. (1992)
10.1016/S0022-2836(05)80360-2
10.1093/nar/22.17.3626
10.1093/nar/16.22.10881
10.1016/S0888-7543(05)80111-9
10.1146/annurev.bb.15.060186.001541
10.1016/0022-2836(82)90515-0
10.1126/science.6359416
scanPROSITE a world wide web tool utility current addresshttp://expasy.hcuge.ch/sprot.scnpsite.html
10.1042/bj3080801
{'key': 'e_1_2_1_15_1', 'first-page': '109', 'volume-title': 'Faraday Symp. Chem. Soc.', 'author': 'Eisenberg D.', 'year': '1982'} / Faraday Symp. Chem. Soc. by Eisenberg D. (1982)
T.E. Creighton 1993 Freeman New York
10.1038/379589a0
10.1006/bmme.1996.0001

Dates

Type	When
Created	23 years, 1 month ago (July 25, 2002, 1:54 p.m.)
Deposited	1 year, 11 months ago (Sept. 16, 2023, 9:35 p.m.)
Indexed	4 months ago (April 29, 2025, 9:29 a.m.)
Issued	28 years, 8 months ago (Dec. 9, 1996)
Published	28 years, 8 months ago (Dec. 9, 1996)
Published Online	25 years, 9 months ago (Dec. 2, 1999)
Published Print	28 years, 8 months ago (Dec. 9, 1996)

Funders 0

None

BibTeX

@article{Janes_1996, title={A model for Batten disease protein CLN3: Functional implications from homology and mutations}, volume={399}, ISSN={1873-3468}, url={http://dx.doi.org/10.1016/s0014-5793(96)01290-2}, DOI={10.1016/s0014-5793(96)01290-2}, number={1–2}, journal={FEBS Letters}, publisher={Wiley}, author={Janes, Robert W. and Munroe, Patricia B. and Mitchison, Hannah M. and Mark Gardiner, R. and Mole, Sara E. and Wallace, B.A.}, year={1996}, month=dec, pages={75–77} }

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