{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:02:03Z","timestamp":1761894123805},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The major protein component of the storage bodies in the late infantile (LIB) and juvenile (JB) forms of Batten disease is subunit c of ATP synthase (subunit c). Ultrastructurally the stored material may appear as curvilinear bodies, fingerprint profiles, or a mixture of both, dependent upon the form of Batten disease and the cell type. The <jats:italic>mnd<\/jats:italic>\/<jats:italic>mnd<\/jats:italic> mouse, an animal model for Batten disease, also stores subunit c and has loosely stacked lamellae within the neurons of the brain and in other cells and tissues. Using a range of tissue samples, immunolocalization, using avidin\u2010biotin techniques at the LM level and postembedding immunogold\u2010labelling (5 nm) with silver enhancement at the EM level, were used to investigate specific subunit c immunoreactivity. Subunit c storage was displayed in a number of cells, including neurons, muscle cells, adipocytes, macrophages, endothelial and some epithelial cells, and exocrine and endocrine cells. By EM, subunit c was localized to all curvilinear\u2010type storage bodies, but to nowhere else within the cell. It was not present over fingerprint profiles, the characteristic storage pattern of neurons within the JB gut, possibly due to steric factors. Preliminary studies in the <jats:italic>mnd<\/jats:italic> mouse showed subunit c immunoreactivity localized to storage profiles seen ultrastructurally in neurons of the brain, and liver and heart cells. We suggest that accumulation and distribution of subunit c within a variety of cell types, and its consistent absence in others, may be related to the particular cell type's longevity and its metabolic demand. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570213","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"172-176","source":"Crossref","is-referenced-by-count":18,"title":["Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid\u2010lipofuscinosis)"],"prefix":"10.1002","volume":"57","author":[{"given":"Sarah A.","family":"Rowan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. D.","family":"Lake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330408"},{"key":"e_1_2_1_3_1","unstructured":"EllederM Mare\u0161V Lis\u00e1V DrahotaZ RichterM(1994):Tissue culture loading test with purified OCL and CCL storage granules. Attempt at testing their lysosomal degradability in vivo. Abstract. 5th International Conference on Neuronal Ceroid Lipofuscinoses Newark New Jersey May 19\u201021."},{"key":"e_1_2_1_4_1","unstructured":"EzakiJ WolfeLS KominamiE(1994):Specific delay of degradation of mitochondrial ATP synthase in Batten disease. Abstract. 5th International Conference on Neuronal Ceroid Lipofuscinoses Newark New Jersey May 19\u201021."},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"10150","DOI":"10.1016\/S0021-9258(17)37002-3","article-title":"Two related proteolipids and dolichol\u2010linked oligosaccharides accumulate in motor neuron degeneration mice (mndlmnd), a model for neuronal ceroid lipofuscinosis","volume":"269","author":"Faust JR","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.153.3744.1615"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2750269"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"14518","DOI":"10.1016\/S0021-9258(18)77333-X","article-title":"ATP synthase complex from bovine heart mitochondria\u2010subunit arrangement as revealed by nearest neighbor analysis and susceptibility to trypsin","volume":"265","author":"Joshi S","year":"1990","journal-title":"J Biol Chem"},{"key":"e_1_2_1_9_1","first-page":"709","volume-title":"Greenfield's Neuropathology.","author":"Lake BD","year":"1992"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710260"},{"key":"e_1_2_1_11_1","first-page":"211","article-title":"Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses","volume":"266","author":"Palmer DN","year":"1989","journal-title":"Adv Exp Med Biol"},{"key":"e_1_2_1_12_1","first-page":"829","article-title":"Accumulation of the adonosine triphosphate synthnsc subunit c in the mnd mutant mouse","volume":"144","author":"Pardo CA","year":"1994","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2818.1992.tb03253.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570213","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:18:18Z","timestamp":1698333498000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570213"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570213","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}