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Page 1
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. ...Today the most promising therapy for this disea …
Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, …
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 …
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inherit …
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N. Lund AM, et al. J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3. J Inherit Metab Dis. 2018. PMID: 29725868 Free PMC article. Clinical Trial.
INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS: Patient data (n = 33; 14 adults, 19 pae …
INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data …
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. AM symptoms and severity vary among individuals; consequen …
Alpha-mannosidosis (AM) is a rare, autosomal recessive, lysosomal storage disorder caused by alpha-mannosidase …
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.
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. ...Diagnosis is made by identification of deficiency of alpha-mannosidase activity in n …
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha …
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 …
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
Harmatz P, Cattaneo F, Ardigò D, Geraci S, Hennermann JB, Guffon N, Lund A, Hendriksz CJ, Borgwardt L. Harmatz P, et al. Mol Genet Metab. 2018 Jun;124(2):152-160. doi: 10.1016/j.ymgme.2018.04.003. Epub 2018 Apr 18. Mol Genet Metab. 2018. PMID: 29716835 Free article.
Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births. ...Thus, we propose a novel multiple variable resp …
Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha …
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.
Borgwardt L, Thuesen AM, Olsen KJ, Fogh J, Dali CI, Lund AM. Borgwardt L, et al. J Inherit Metab Dis. 2015 Nov;38(6):1119-27. doi: 10.1007/s10545-015-9862-4. Epub 2015 May 28. J Inherit Metab Dis. 2015. PMID: 26016802
BACKGROUND: Alpha-mannosidosis (OMIM 248500) (AM) is a rare lysosomal storage disease caused by a deficiency of the alpha-mannosidase enzyme. ...CONCLUSIONS: Intellectual disability is a consistent finding in patients with alpha-mannos …
BACKGROUND: Alpha-mannosidosis (OMIM 248500) (AM) is a rare lysosomal storage disease caused by a deficiency of the …
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 subst …
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice.
Blanz J, Stroobants S, Lüllmann-Rauch R, Morelle W, Lüdemann M, D'Hooge R, Reuterwall H, Michalski JC, Fogh J, Andersson C, Saftig P. Blanz J, et al. Hum Mol Genet. 2008 Nov 15;17(22):3437-45. doi: 10.1093/hmg/ddn237. Epub 2008 Aug 19. Hum Mol Genet. 2008. PMID: 18713755
This prevents efficient clearance of neuronal storage, which is present in many of these disorders including alpha-mannosidosis. Here we show that the neuropathology of a mouse model for alpha-mannosidosis can be efficiently treated using recombinant h …
This prevents efficient clearance of neuronal storage, which is present in many of these disorders including alpha-mannosidosis …
54 results