Literature DB >> 22157680

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

Anette Schneider1, Christian Thiel, Jan Rindermann, Charles DeRossi, Diana Popovici, Georg F Hoffmann, Hermann-Josef Gröne, Christian Körner.   

Abstract

Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC 5.4.2.8) leading to a multisystemic disease with severe psychomotor and mental retardation. In a hypomorphic Pmm2 mouse model, we were able to overcome embryonic lethality by feeding mannose to pregnant dams. The results underline the essential role of glycosylation in embryonic development and may open new treatment options for this disease.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 22157680     DOI： 10.1038/nm.2548

Source DB:  PubMed          Journal:  Nat Med        ISSN： 1078-8956            Impact factor:   53.440


  12 in total

1.  Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.

Authors:  E Mayatepek; D Kohlmüller
Journal:  Eur J Pediatr       Date:  1998-07       Impact factor: 3.183

2.  Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Mayatepek; M Schröder; D Kohlmüller; W P Bieger; W Nützenadel
Journal:  Acta Paediatr       Date:  1997-10       Impact factor: 2.299

Review 3.  Fetal nutrition and adult disease.

Authors:  K M Godfrey; D J Barker
Journal:  Am J Clin Nutr       Date:  2000-05       Impact factor: 7.045

4.  Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

Authors:  S Kjaergaard; B Kristiansson; H Stibler; H H Freeze; M Schwartz; T Martinsson; F Skovby
Journal:  Acta Paediatr       Date:  1998-08       Impact factor: 2.299

5.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Authors:  G Matthijs; E Schollen; E Van Schaftingen; J J Cassiman; J Jaeken
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

6.  Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Authors:  S Kjaergaard; F Skovby; M Schwartz
Journal:  Eur J Hum Genet       Date:  1999-12       Impact factor: 4.246

Review 7.  The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Authors:  Stephanie Grünewald
Journal:  Biochim Biophys Acta       Date:  2009-01-14

8.  Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.

Authors:  C Körner; L Lehle; K von Figura
Journal:  Glycoconj J       Date:  1998-05       Impact factor: 2.916

9.  The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.

Authors:  Nicholas R Silvaggi; Chunchun Zhang; Zhibing Lu; Jianying Dai; Debra Dunaway-Mariano; Karen N Allen
Journal:  J Biol Chem       Date:  2006-03-15       Impact factor: 5.157

10.  Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.

Authors:  K Panneerselvam; H H Freeze
Journal:  J Clin Invest       Date:  1996-03-15       Impact factor: 14.808
View more
  40 in total

1.  Transplacental supply of mannose and inositol in uncomplicated pregnancies using stable isotopes.

Authors:  Barton C Staat; Henry L Galan; Jeri E F Harwood; Gene Lee; Anna Maria Marconi; Cinzia L Paolini; Alex Cheung; Frederick C Battaglia
Journal:  J Clin Endocrinol Metab       Date:  2012-04-27       Impact factor: 5.958

2.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

3.  The metabolic origins of mannose in glycoproteins.

Authors:  Mie Ichikawa; David A Scott; Marie-Estelle Losfeld; Hudson H Freeze
Journal:  J Biol Chem       Date:  2014-01-09       Impact factor: 5.157

4.  D-mannose induces regulatory T cells and suppresses immunopathology.

Authors:  Dunfang Zhang; Cheryl Chia; Xue Jiao; Wenwen Jin; Shimpei Kasagi; Ruiqing Wu; Joanne E Konkel; Hiroko Nakatsukasa; Peter Zanvit; Nathan Goldberg; Qianming Chen; Lingyun Sun; Zi-Jiang Chen; WanJun Chen
Journal:  Nat Med       Date:  2017-07-24       Impact factor: 53.440

5.  Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.

Authors:  Nastassja Himmelreich; Lilian T Kaufmann; Herbert Steinbeisser; Christian Körner; Christian Thiel
Journal:  J Inherit Metab Dis       Date:  2015-07-04       Impact factor: 4.982

Review 6.  Understanding human glycosylation disorders: biochemistry leads the charge.

Authors:  Hudson H Freeze
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

7.  Oligosaccharyltransferase inhibition induces senescence in RTK-driven tumor cells.

Authors:  Cecilia Lopez-Sambrooks; Shiteshu Shrimal; Carol Khodier; Daniel P Flaherty; Natalie Rinis; Jonathan C Charest; Ningguo Gao; Peng Zhao; Lance Wells; Timothy A Lewis; Mark A Lehrman; Reid Gilmore; Jennifer E Golden; Joseph N Contessa
Journal:  Nat Chem Biol       Date:  2016-10-03       Impact factor: 15.040

Review 8.  Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.

Authors:  Ryan P Berger; Michelle Dookwah; Richard Steet; Stephen Dalton
Journal:  Bioessays       Date:  2016-09-26       Impact factor: 4.345

Review 9.  Mannose metabolism: more than meets the eye.

Authors:  Vandana Sharma; Mie Ichikawa; Hudson H Freeze
Journal:  Biochem Biophys Res Commun       Date:  2014-06-12       Impact factor: 3.575

10.  Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.

Authors:  Vandana Sharma; Jonamani Nayak; Charles DeRossi; Adriana Charbono; Mie Ichikawa; Bobby G Ng; Erika Grajales-Esquivel; Anand Srivastava; Ling Wang; Ping He; David A Scott; Joseph Russell; Emily Contreras; Cherise M Guess; Stan Krajewski; Katia Del Rio-Tsonis; Hudson H Freeze
Journal:  FASEB J       Date:  2014-01-13       Impact factor: 5.191
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.