Next Article in Journal
Overview of Cadmium Thyroid Disrupting Effects and Mechanisms
Next Article in Special Issue
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
Previous Article in Journal
Ethyl Acetate Fraction from Persimmon (Diospyros kaki) Ameliorates Cerebral Neuronal Loss and Cognitive Deficit via the JNK/Akt Pathway in TMT-Induced Mice
Previous Article in Special Issue
Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy

Alpha-Mannosidosis: Therapeutic Strategies

Department of Pharmaceutical Sciences; University of Perugia, Via Fabretti 48, 06123 Perugia, Italy
MAGI Human Medical Genetics Institute; laboratory of genetic diagnosis of rare diseases, 38068 Rovereto, Italy
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2018, 19(5), 1500;
Received: 19 April 2018 / Revised: 4 May 2018 / Accepted: 15 May 2018 / Published: 17 May 2018
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies)
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-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. View Full-Text
Keywords: alpha-d-mannosidase; alpha-mannosidosis; enzyme replacement therapy; lysosomes alpha-d-mannosidase; alpha-mannosidosis; enzyme replacement therapy; lysosomes
Show Figures

Graphical abstract

MDPI and ACS Style

Ceccarini, M.R.; Codini, M.; Conte, C.; Patria, F.; Cataldi, S.; Bertelli, M.; Albi, E.; Beccari, T. Alpha-Mannosidosis: Therapeutic Strategies. Int. J. Mol. Sci. 2018, 19, 1500.

AMA Style

Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T. Alpha-Mannosidosis: Therapeutic Strategies. International Journal of Molecular Sciences. 2018; 19(5):1500.

Chicago/Turabian Style

Ceccarini, Maria R., Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, and Tommaso Beccari. 2018. "Alpha-Mannosidosis: Therapeutic Strategies" International Journal of Molecular Sciences 19, no. 5: 1500.

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop