Alpha-Mannosidosis: Therapeutic Strategies

Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level....
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Maria Rachele Ceccarini [verfasserIn] Michela Codini [verfasserIn] Carmela Conte [verfasserIn] Federica Patria [verfasserIn] Samuela Cataldi [verfasserIn] Matteo Bertelli [verfasserIn] Elisabetta Albi [verfasserIn] Tommaso Beccari [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 19(2018), 5, p 1500
Übergeordnetes Werk:	volume:19 ; year:2018 ; number:5, p 1500

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/ijms19051500

Katalog-ID:	DOAJ005470285

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Indexfelder

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allfields	10.3390/ijms19051500 doi (DE-627)DOAJ005470285 (DE-599)DOAJd7ad5c024c794a25a9fe0a6216a4e6d5 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Maria Rachele Ceccarini verfasserin aut Alpha-Mannosidosis: Therapeutic Strategies 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis. alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes Biology (General) Chemistry Michela Codini verfasserin aut Carmela Conte verfasserin aut Federica Patria verfasserin aut Samuela Cataldi verfasserin aut Matteo Bertelli verfasserin aut Elisabetta Albi verfasserin aut Tommaso Beccari verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 19(2018), 5, p 1500 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:19 year:2018 number:5, p 1500 https://doi.org/10.3390/ijms19051500 kostenfrei https://doaj.org/article/d7ad5c024c794a25a9fe0a6216a4e6d5 kostenfrei http://www.mdpi.com/1422-0067/19/5/1500 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 5, p 1500
spelling	10.3390/ijms19051500 doi (DE-627)DOAJ005470285 (DE-599)DOAJd7ad5c024c794a25a9fe0a6216a4e6d5 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Maria Rachele Ceccarini verfasserin aut Alpha-Mannosidosis: Therapeutic Strategies 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis. alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes Biology (General) Chemistry Michela Codini verfasserin aut Carmela Conte verfasserin aut Federica Patria verfasserin aut Samuela Cataldi verfasserin aut Matteo Bertelli verfasserin aut Elisabetta Albi verfasserin aut Tommaso Beccari verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 19(2018), 5, p 1500 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:19 year:2018 number:5, p 1500 https://doi.org/10.3390/ijms19051500 kostenfrei https://doaj.org/article/d7ad5c024c794a25a9fe0a6216a4e6d5 kostenfrei http://www.mdpi.com/1422-0067/19/5/1500 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 5, p 1500
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allfieldsSound	10.3390/ijms19051500 doi (DE-627)DOAJ005470285 (DE-599)DOAJd7ad5c024c794a25a9fe0a6216a4e6d5 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Maria Rachele Ceccarini verfasserin aut Alpha-Mannosidosis: Therapeutic Strategies 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis. alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes Biology (General) Chemistry Michela Codini verfasserin aut Carmela Conte verfasserin aut Federica Patria verfasserin aut Samuela Cataldi verfasserin aut Matteo Bertelli verfasserin aut Elisabetta Albi verfasserin aut Tommaso Beccari verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 19(2018), 5, p 1500 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:19 year:2018 number:5, p 1500 https://doi.org/10.3390/ijms19051500 kostenfrei https://doaj.org/article/d7ad5c024c794a25a9fe0a6216a4e6d5 kostenfrei http://www.mdpi.com/1422-0067/19/5/1500 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 5, p 1500
language	English
source	In International Journal of Molecular Sciences 19(2018), 5, p 1500 volume:19 year:2018 number:5, p 1500
sourceStr	In International Journal of Molecular Sciences 19(2018), 5, p 1500 volume:19 year:2018 number:5, p 1500
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topic_facet	alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes Biology (General) Chemistry
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container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Maria Rachele Ceccarini @@aut@@ Michela Codini @@aut@@ Carmela Conte @@aut@@ Federica Patria @@aut@@ Samuela Cataldi @@aut@@ Matteo Bertelli @@aut@@ Elisabetta Albi @@aut@@ Tommaso Beccari @@aut@@
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author	Maria Rachele Ceccarini
spellingShingle	Maria Rachele Ceccarini misc QH301-705.5 misc QD1-999 misc alpha-d-mannosidase misc alpha-mannosidosis misc enzyme replacement therapy misc lysosomes misc Biology (General) misc Chemistry Alpha-Mannosidosis: Therapeutic Strategies
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topic_title	QH301-705.5 QD1-999 Alpha-Mannosidosis: Therapeutic Strategies alpha-d-mannosidase alpha-mannosidosis enzyme replacement therapy lysosomes
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title	Alpha-Mannosidosis: Therapeutic Strategies
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title_sort	alpha-mannosidosis: therapeutic strategies
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title_auth	Alpha-Mannosidosis: Therapeutic Strategies
abstract	Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis.
abstractGer	Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis.
abstract_unstemmed	Alpha-mannosidosis (a-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal a-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis. In this review, the genetic of alpha-mannosidosis has been described together with the results so far obtained by two different therapeutic strategies: bone marrow transplantation and enzyme replacement therapy. The primary indication to offer hematopoietic stem cell transplantation in patients affected by alpha-mannosidosis is preservation of neurocognitive function and prevention of early death. The results obtained from a Phase I–II study and a Phase III study provide evidence of the positive clinical effect of the recombinant enzyme on patients with alpha-mannosidosis.
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title_short	Alpha-Mannosidosis: Therapeutic Strategies
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