Literature DB >> 11322479

Recent progress in lysosomal alpha-mannosidase and its deficiency.

H Sun1, J H Wolfe.   

Abstract

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, domestic cats and guinea pigs. Recently, great progress has been made in studying the enzyme and its deficiency. This includes cloning of the gene encoding the enzyme, characterization of mutations related to the disease, establishment of valuable animal models, and encouraging results from bone marrow transplantation experiments.

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Year:  2001        PMID： 11322479     DOI： 10.1038/emm.2001.1

Source DB:  PubMed          Journal:  Exp Mol Med        ISSN： 1226-3613            Impact factor:   8.718


  10 in total

1.  Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism.

Authors:  Chaeho Park; Lu Meng; Leslie H Stanton; Robert E Collins; Steven W Mast; Xiaobing Yi; Heather Strachan; Kelley W Moremen
Journal:  J Biol Chem       Date:  2005-08-22       Impact factor: 5.157

2.  Apparent diffusion coefficient reveals gray and white matter disease, and T2 mapping detects white matter disease in the brain in feline alpha-mannosidosis.

Authors:  C H Vite; S Magnitsky; D Aleman; P O'Donnell; K Cullen; W Ding; S Pickup; J H Wolfe; H Poptani
Journal:  AJNR Am J Neuroradiol       Date:  2007-11-01       Impact factor: 3.825

3.  The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

Authors:  A A Broomfield; A Chakrapani; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2010-02-18       Impact factor: 4.982

4.  Biochemical Characterization of a Lysosomal α-Mannosidase from the Starfish Asterias rubens.

Authors:  Aravindakshan Ajith Kumar; Nadimpalli Siva Kumar
Journal:  Protein J       Date:  2018-08       Impact factor: 2.371

5.  Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.

Authors:  Sea Young Yoon; Jessica H Bagel; Patricia A O'Donnell; Charles H Vite; John H Wolfe
Journal:  Mol Ther       Date:  2015-09-10       Impact factor: 11.454

Review 6.  Animal models for metabolic, neuromuscular and ophthalmological rare diseases.

Authors:  Guillaume Vaquer; Frida Rivière; Maria Mavris; Fabrizia Bignami; Jordi Llinares-Garcia; Kerstin Westermark; Bruno Sepodes
Journal:  Nat Rev Drug Discov       Date:  2013-03-15       Impact factor: 84.694

Review 7.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

8.  Expression, purification and preliminary crystallographic analysis of Drosophila melanogaster lysosomal α-mannosidase.

Authors:  I Nemčovičová; M Nemčovič; S Sesták; M Plšková; I B H Wilson; J Mucha
Journal:  Acta Crystallogr Sect F Struct Biol Cryst Commun       Date:  2012-07-31

9.  Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats.

Authors:  Sergey Magnitsky; Charles H Vite; Edward J Delikatny; Stephen Pickup; Suzanne Wehrli; John H Wolfe; Harish Poptani
Journal:  NMR Biomed       Date:  2010-01       Impact factor: 4.044

10.  Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis.

Authors:  Manoj Kumar; Jeff T Duda; Sea Young Yoon; Jessica Bagel; Patricia O'Donnell; Charles Vite; Stephen Pickup; James C Gee; John H Wolfe; Harish Poptani
Journal:  J Neuropathol Exp Neurol       Date:  2016-01       Impact factor: 3.148
  10 in total

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