Literature DB >> 27350601

Perhaps a wee bit of sugar would help.

Hudson H Freeze1.   

Abstract

A new genetic disorder might be treatable through consumption of a simple sugar, but the relative contributions of endogenous and dietary sources are mostly unknown. It's time to change that.

Entities:  

Year:  2016        PMID： 27350601      PMCID： PMC5428893          DOI： 10.1038/ng.3600

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  10 in total

1.  Correction of leukocyte adhesion deficiency type II with oral fucose.

Authors:  T Marquardt; K Lühn; G Srikrishna; H H Freeze; E Harms; D Vestweber
Journal:  Blood       Date:  1999-12-15       Impact factor: 22.113

2.  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

3.  N-acetylglucosamine inhibits T-helper 1 (Th1)/T-helper 17 (Th17) cell responses and treats experimental autoimmune encephalomyelitis.

Authors:  Ani Grigorian; Lindsey Araujo; Nandita N Naidu; Dylan J Place; Biswa Choudhury; Michael Demetriou
Journal:  J Biol Chem       Date:  2011-09-29       Impact factor: 5.157

4.  A pilot study of N-acetyl glucosamine, a nutritional substrate for glycosaminoglycan synthesis, in paediatric chronic inflammatory bowel disease.

Authors:  S Salvatore; R Heuschkel; S Tomlin; S E Davies; S Edwards; J A Walker-Smith; I French; S H Murch
Journal:  Aliment Pharmacol Ther       Date:  2000-12       Impact factor: 8.171

5.  Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Authors:  R Niehues; M Hasilik; G Alton; C Körner; M Schiebe-Sukumar; H G Koch; K P Zimmer; R Wu; E Harms; K Reiter; K von Figura; H H Freeze; H K Harms; T Marquardt
Journal:  J Clin Invest       Date:  1998-04-01       Impact factor: 14.808

6.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  Yu Zhang; Xiaomin Yu; Mie Ichikawa; Jonathan J Lyons; Shrimati Datta; Ian T Lamborn; Huie Jing; Emily S Kim; Matthew Biancalana; Lynne A Wolfe; Thomas DiMaggio; Helen F Matthews; Sarah M Kranick; Kelly D Stone; Steven M Holland; Daniel S Reich; Jason D Hughes; Huseyin Mehmet; Joshua McElwee; Alexandra F Freeman; Hudson H Freeze; Helen C Su; Joshua D Milner
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

Review 7.  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

8.  Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Authors:  Terren K Niethamer; Tal Yardeni; Petcharat Leoyklang; Carla Ciccone; Adrian Astiz-Martinez; Katherine Jacobs; Heidi M Dorward; Patricia M Zerfas; William A Gahl; Marjan Huizing
Journal:  Mol Genet Metab       Date:  2012-10-18       Impact factor: 4.797

9.  Multiple phenotypes in phosphoglucomutase 1 deficiency.

Authors:  Laura C Tegtmeyer; Stephan Rust; Monique van Scherpenzeel; Bobby G Ng; Marie-Estelle Losfeld; Sharita Timal; Kimiyo Raymond; Ping He; Mie Ichikawa; Joris Veltman; Karin Huijben; Yoon S Shin; Vandana Sharma; Maciej Adamowicz; Martin Lammens; Janine Reunert; Anika Witten; Esther Schrapers; Gert Matthijs; Jaak Jaeken; Daisy Rymen; Tanya Stojkovic; Pascal Laforêt; François Petit; Olivier Aumaître; Elzbieta Czarnowska; Monique Piraud; Teodor Podskarbi; Charles A Stanley; Reuben Matalon; Patricie Burda; Soraya Seyyedi; Volker Debus; Piotr Socha; Jolanta Sykut-Cegielska; Francjan van Spronsen; Linda de Meirleir; Pietro Vajro; Terry DeClue; Can Ficicioglu; Yoshinao Wada; Ron A Wevers; Dieter Vanderschaeghe; Nico Callewaert; Ralph Fingerhut; Emile van Schaftingen; Hudson H Freeze; Eva Morava; Dirk J Lefeber; Thorsten Marquardt
Journal:  N Engl J Med       Date:  2014-02-06       Impact factor: 91.245

10.  NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Authors:  Clara D M van Karnebeek; Luisa Bonafé; Xiao-Yan Wen; Maja Tarailo-Graovac; Sara Balzano; Beryl Royer-Bertrand; Angel Ashikov; Livia Garavelli; Isabella Mammi; Licia Turolla; Catherine Breen; Dian Donnai; Valérie Cormier-Daire; Delphine Heron; Gen Nishimura; Shinichi Uchikawa; Belinda Campos-Xavier; Antonio Rossi; Thierry Hennet; Koroboshka Brand-Arzamendi; Jacob Rozmus; Keith Harshman; Brian J Stevenson; Enrico Girardi; Giulio Superti-Furga; Tammie Dewan; Alissa Collingridge; Jessie Halparin; Colin J Ross; Margot I Van Allen; Andrea Rossi; Udo F Engelke; Leo A J Kluijtmans; Ed van der Heeft; Herma Renkema; Arjan de Brouwer; Karin Huijben; Fokje Zijlstra; Torben Heise; Thomas Boltje; Wyeth W Wasserman; Carlo Rivolta; Sheila Unger; Dirk J Lefeber; Ron A Wevers; Andrea Superti-Furga
Journal:  Nat Genet       Date:  2016-05-23       Impact factor: 38.330
  10 in total
  2 in total

1.  Oral D-galactose supplementation in PGM1-CDG.

Authors:  Sunnie Yan-Wai Wong; Therese Gadomski; Monique van Scherpenzeel; Tomas Honzik; Hana Hansikova; Katja S Brocke Holmefjord; Marit Mork; Francis Bowling; Jolanta Sykut-Cegielska; Dieter Koch; Jozef Hertecant; Graeme Preston; Jaak Jaeken; Nicole Peeters; Stefanie Perez; David Do Nguyen; Kea Crivelly; Tim Emmerzaal; K Michael Gibson; Kimiyo Raymond; Nurulamin Abu Bakar; Francois Foulquier; Gernot Poschet; Amanda M Ackermann; Miao He; Dirk J Lefeber; Christian Thiel; Tamas Kozicz; Eva Morava
Journal:  Genet Med       Date:  2017-06-15       Impact factor: 8.822

2.  The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.

Authors:  Christel Tran; Licia Turolla; Diana Ballhausen; Sandrine Cornaz Buros; Tony Teav; Hector Gallart-Ayala; Julijana Ivanisevic; Mohamed Faouzi; Dirk J Lefeber; Ivan Ivanovski; Sara Giangiobbe; Stefano Giuseppe Caraffi; Livia Garavelli; Andrea Superti-Furga
Journal:  Mol Genet Metab Rep       Date:  2021-06-26
  2 in total

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