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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. ...Similarly to other lysosomal storage d …
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inherit …
Lysosomal alpha-D-mannosidase.
Beccari T, Stinchi S, Orlacchio A. Beccari T, et al. Biosci Rep. 1999 Jun;19(3):157-62. doi: 10.1023/a:1020217501465. Biosci Rep. 1999. PMID: 10513892 Review.
Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal alpha-D-mannosidasea activity. ...The construction, by homologous recombination, of a mouse model of alpha-mannosidosis …
Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...This study aimed to investigate the age at death and the causes of death of patients with alpha- …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of …
Alpha-mannosidosis.
Malm D, Nilssen Ø. Malm D, et al. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Orphanet J Rare Dis. 2008. PMID: 18651971 Free PMC article. Review.
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. ...The clinical variability is significant, representing a continuum in sever …
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal a …
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
Borgwardt L, Lund AM, Dali CI. Borgwardt L, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:185-91. Pediatr Endocrinol Rev. 2014. PMID: 25345101 Review.
Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pi …
Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lys …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosi …
Mammalian beta-D-mannosidase and beta-mannosidosis.
Percheron F, Foglietti MJ, Bernard M, Ricard B. Percheron F, et al. Biochimie. 1992 Jan;74(1):5-11. doi: 10.1016/0300-9084(92)90179-i. Biochimie. 1992. PMID: 1576208 Review.
Lysosomal beta-D-mannosidase is the last exoglycosidase involved in the sequential degradation of the N-glycosylproteins glycans. ...Our own results concerning human enzyme (from kidney and urine, seminal plasma and blood cells) suggest that, apart from the case of the inh …
Lysosomal beta-D-mannosidase is the last exoglycosidase involved in the sequential degradation of the N-glycosylproteins glycans. ... …
Recent progress in lysosomal alpha-mannosidase and its deficiency.
Sun H, Wolfe JH. Sun H, et al. Exp Mol Med. 2001 Mar 31;33(1):1-7. doi: 10.1038/emm.2001.1. Exp Mol Med. 2001. PMID: 11322479 Review.
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, alpha-mannosidosis, which has been described in humans, cattle, domest …
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency …
The neuropsychiatry of inborn errors of metabolism.
Walterfang M, Bonnot O, Mocellin R, Velakoulis D. Walterfang M, et al. J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23. J Inherit Metab Dis. 2013. PMID: 23700255 Review.
Metabolic disorders appear to result in neuropsychiatric illness either through disruption of late neurodevelopmental processes (metachromatic leukodystrophy, adrenoleukodystrophy, GM2 gangliosidosis, Niemann-Pick type C, cerebrotendinous xanthomatosis, neuronal ceroid lipofuscin …
Metabolic disorders appear to result in neuropsychiatric illness either through disruption of late neurodevelopmental processes (metachromat …
45 results