Biochemical heterogeneity of infantile central nervous system spongy degeneration

Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of f...

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Main Author: Youssef, Nazih (author)
Other Authors: Tipirnemi, Aparna (author), Subramanyan, Sarvepalli B. (author)
Format: article
Published: 1992
Online Access:http://hdl.handle.net/10725/6530
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://journals.sagepub.com/doi/abs/10.1177/08830738920070010411
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author Youssef, Nazih
author2 Tipirnemi, Aparna
Subramanyan, Sarvepalli B.
author2_role author
author
author_facet Youssef, Nazih
Tipirnemi, Aparna
Subramanyan, Sarvepalli B.
author_role author
dc.creator.none.fl_str_mv Youssef, Nazih
Tipirnemi, Aparna
Subramanyan, Sarvepalli B.
dc.date.none.fl_str_mv 1992
2017-11-07T13:46:53Z
2017-11-07T13:46:53Z
2017-11-07
dc.identifier.none.fl_str_mv 1708-8283
http://hdl.handle.net/10725/6530
Subramanyam, S. B., Tipirneni, A., Youssef, N., Gascon, G. G., & Ozand, P. T. (1992). Biochemical heterogeneity of infantile central nervous system spongy degeneration. Journal of child neurology, 7(1_suppl), S22-S25.
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://journals.sagepub.com/doi/abs/10.1177/08830738920070010411
dc.language.none.fl_str_mv en
dc.relation.none.fl_str_mv Journal of Child Neurology
dc.rights.*.fl_str_mv info:eu-repo/semantics/openAccess
dc.title.none.fl_str_mv Biochemical heterogeneity of infantile central nervous system spongy degeneration
dc.type.none.fl_str_mv Article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/article
description Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of fibroblasts is protected by leupeptin, a protease inhibitor. In the absence of leupeptin, 90% of aspartoacylase activity is lost. In some patients with infantile spongy degeneration, no activity (less than 2%) can be detected. In some other patients with residual activity in fibroblasts, two separate peaks of enzyme are eluted with molecular weight corresponding to approximately 59 and 19 kD. Aspartoacylase activity in this latter group is protected to the same extent by the presence of leupeptin. However, the elution of two peaks is independent of the presence of leupeptin. This study indicates biochemical heterogeneity in the pathogenesis of infantile spongy degeneration
eu_rights_str_mv openAccess
format article
id LAURepo_563f385aa6b361364168038348fa6602
identifier_str_mv 1708-8283
Subramanyam, S. B., Tipirneni, A., Youssef, N., Gascon, G. G., & Ozand, P. T. (1992). Biochemical heterogeneity of infantile central nervous system spongy degeneration. Journal of child neurology, 7(1_suppl), S22-S25.
language_invalid_str_mv en
network_acronym_str LAURepo
network_name_str Lebanese American University repository
oai_identifier_str oai:laur.lau.edu.lb:10725/6530
publishDate 1992
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spelling Biochemical heterogeneity of infantile central nervous system spongy degenerationYoussef, NazihTipirnemi, AparnaSubramanyan, Sarvepalli B.Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of fibroblasts is protected by leupeptin, a protease inhibitor. In the absence of leupeptin, 90% of aspartoacylase activity is lost. In some patients with infantile spongy degeneration, no activity (less than 2%) can be detected. In some other patients with residual activity in fibroblasts, two separate peaks of enzyme are eluted with molecular weight corresponding to approximately 59 and 19 kD. Aspartoacylase activity in this latter group is protected to the same extent by the presence of leupeptin. However, the elution of two peaks is independent of the presence of leupeptin. This study indicates biochemical heterogeneity in the pathogenesis of infantile spongy degenerationPublishedN/A2017-11-07T13:46:53Z2017-11-07T13:46:53Z19922017-11-07Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1708-8283http://hdl.handle.net/10725/6530Subramanyam, S. B., Tipirneni, A., Youssef, N., Gascon, G. G., & Ozand, P. T. (1992). Biochemical heterogeneity of infantile central nervous system spongy degeneration. Journal of child neurology, 7(1_suppl), S22-S25.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://journals.sagepub.com/doi/abs/10.1177/08830738920070010411enJournal of Child Neurologyinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/65302021-03-19T10:03:27Z
spellingShingle Biochemical heterogeneity of infantile central nervous system spongy degeneration
Youssef, Nazih
status_str publishedVersion
title Biochemical heterogeneity of infantile central nervous system spongy degeneration
title_full Biochemical heterogeneity of infantile central nervous system spongy degeneration
title_fullStr Biochemical heterogeneity of infantile central nervous system spongy degeneration
title_full_unstemmed Biochemical heterogeneity of infantile central nervous system spongy degeneration
title_short Biochemical heterogeneity of infantile central nervous system spongy degeneration
title_sort Biochemical heterogeneity of infantile central nervous system spongy degeneration
url http://hdl.handle.net/10725/6530
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://journals.sagepub.com/doi/abs/10.1177/08830738920070010411