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Page 1
Alpha-Mannosidosis: Therapeutic Strategies.
Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T. Ceccarini MR, et al. Int J Mol Sci. 2018 May 17;19(5):1500. doi: 10.3390/ijms19051500. Int J Mol Sci. 2018. PMID: 29772816 Free PMC article. Review.
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal alpha-d-mannosidase. ...The results obtained from a Phase I-II study and a Phase III study …
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by …
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S, Codini M, Tasegian A, Ceccarini MR, Cataldi S, Arcuri C, Fioretti B, Albi E, Beccari T. Paciotti S, et al. Front Biosci (Landmark Ed). 2017 Jan 1;22(1):157-167. doi: 10.2741/4478. Front Biosci (Landmark Ed). 2017. PMID: 27814608 Free article. Review.
Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, resulting in the accumulation of unprocessed mannose containing oligosaccharide material. ...Interestingly it has been shown that the recombinant enzyme, used in …
Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, resulting in the accu …
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H. Abdul Ghani S, et al. Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. Int J Surg. 2023. PMID: 37352513 Free PMC article.
The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual disability. The clinical subtype of AM shows considerable variability in an individual, and at present, at least three clinical subtypes are sugge …
The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual disability. The c …
Gene mapping and chromosome 19.
Shaw DJ, Brook JD, Meredith AL, Harley HG, Sarfarazi M, Harper PS. Shaw DJ, et al. J Med Genet. 1986 Feb;23(1):2-10. doi: 10.1136/jmg.23.1.2. J Med Genet. 1986. PMID: 3081724 Free PMC article. Review.
Other loci include five blood groups, a cluster of apolipoprotein genes, and the receptors for insulin and polio virus. A number of cloned genes and random DNA sequences identify polymorphisms which, together with blood group and other protein polymorphisms, have been used …
Other loci include five blood groups, a cluster of apolipoprotein genes, and the receptors for insulin and polio virus. A number of cloned g …
Pharmacological Chaperones for the Treatment of alpha-Mannosidosis.
Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, Nanba E, Higaki K, García Fernández JM, Ortiz Mellet C. Rísquez-Cuadro R, et al. J Med Chem. 2019 Jun 27;62(12):5832-5843. doi: 10.1021/acs.jmedchem.9b00153. Epub 2019 May 2. J Med Chem. 2019. PMID: 31017416
alpha-Mannosidosis (AM) results from deficient lysosomal alpha-mannosidase (LAMAN) activity and subsequent substrate accumulation in the lysosome, leading to severe pathology. ...
alpha-Mannosidosis (AM) results from deficient lysosomal alpha-mannosidase (LAMAN) activity and subsequent substrate accumulation in …
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice.
Stroobants S, Damme M, Van der Jeugd A, Vermaercke B, Andersson C, Fogh J, Saftig P, Blanz J, D'Hooge R. Stroobants S, et al. Neurobiol Dis. 2017 Oct;106:255-268. doi: 10.1016/j.nbd.2017.07.013. Epub 2017 Jul 15. Neurobiol Dis. 2017. PMID: 28720484
Alpha-mannosidosis is a glycoproteinosis caused by deficiency of lysosomal acid alpha-mannosidase (LAMAN), which markedly affects neurons of the central nervous system (CNS), and causes pathognomonic intellectual dysfunction in the clinical condition. ...Long-term t …
Alpha-mannosidosis is a glycoproteinosis caused by deficiency of lysosomal acid alpha-mannosidase (LAMAN), which markedly affects neu …
Tandem mass spectrometry-based multiplex assays for alpha-mannosidosis and fucosidosis.
Kumar AB, Hong X, Yi F, Wood T, Gelb MH. Kumar AB, et al. Mol Genet Metab. 2019 Jul;127(3):207-211. doi: 10.1016/j.ymgme.2019.05.016. Epub 2019 Jun 10. Mol Genet Metab. 2019. PMID: 31235216 Free PMC article.
Herein we report the development of MS/MS-based enzyme assays for the diagnosis of alpha-mannosidosis and fucosidosis. These new protocols are able to distinguish untreated patients from random newborns, carriers and a post-bone marrow transplant patient. We have su …
Herein we report the development of MS/MS-based enzyme assays for the diagnosis of alpha-mannosidosis and fucosidosis. These new prot …
Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.
Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ. Crawley AC, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):48-57. doi: 10.1016/j.ymgme.2006.05.005. Epub 2006 Jun 27. Mol Genet Metab. 2006. PMID: 16807033
Patients develop behaviour and learning difficulties, skeletal abnormalities, immune deficiency and hearing impairment. Disease in alpha-mannosidosis guinea-pigs resembles the clinical, histopathological, biochemical and molecular features of the human disease. ...M …
Patients develop behaviour and learning difficulties, skeletal abnormalities, immune deficiency and hearing impairment. Disease in alpha- …
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N, Konstantopoulou V, Hennermann JB, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A. Guffon N, et al. J Inherit Metab Dis. 2023 Jul;46(4):705-719. doi: 10.1002/jimd.12602. Epub 2023 Mar 13. J Inherit Metab Dis. 2023. PMID: 36849760 Clinical Trial.
Alpha-mannosidosis (AM) is a rare, autosomal recessive, lysosomal storage disorder caused by alpha-mannosidase deficiency that leads to the accumulation of mannose-rich oligosaccharides. ...Previous studies suggested that early VA treatment in children may produce greater …
Alpha-mannosidosis (AM) is a rare, autosomal recessive, lysosomal storage disorder caused by alpha-mannosidase deficiency that leads …
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
Hennermann JB, Guffon N, Cattaneo F, Ceravolo F, Borgwardt L, Lund AM, Gil-Campos M, Tylki-Szymanska A, Muschol NM. Hennermann JB, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):271. doi: 10.1186/s13023-020-01549-8. Orphanet J Rare Dis. 2020. PMID: 32993743 Free PMC article.
SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. ...CONCLUSION: This study will provide real-world data on the l …
SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa dur …
38 results