Literature DB >> 23329833

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.

Lance Wells1.   

Abstract

Several forms of congenital muscular dystrophy, referred to as dystroglycanopathies, result from defects in the protein O-mannosylation biosynthetic pathway. In this minireview, I discuss 12 proteins involved in the pathway and how they play a role in the building of glycan structures (most notably on the protein α-dystroglycan) that allow for binding to multiple proteins of the extracellular matrix.

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Year:  2013        PMID： 23329833      PMCID： PMC3591603          DOI： 10.1074/jbc.R112.438978

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  78 in total

1.  Diagnosis and etiology of congenital muscular dystrophy.

Authors:  R A Peat; J M Smith; A G Compton; N L Baker; R A Pace; D J Burkin; S J Kaufman; S R Lamandé; K N North
Journal:  Neurology       Date:  2007-12-26       Impact factor: 9.910

2.  O-linked N-acetylglucosamine is present on the extracellular domain of notch receptors.

Authors:  Aiko Matsuura; Makiko Ito; Yuta Sakaidani; Tatsuhiko Kondo; Kosuke Murakami; Koichi Furukawa; Daita Nadano; Tsukasa Matsuda; Tetsuya Okajima
Journal:  J Biol Chem       Date:  2008-10-23       Impact factor: 5.157

3.  POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Authors:  S Messina; M Mora; E Pegoraro; A Pini; T Mongini; A D'Amico; M Pane; C Aiello; C Bruno; R Biancheri; A Berardinelli; C Boito; L Farina; L Morandi; I Moroni; R Pezzani; A Pichiecchio; E Ricci; A Ruggieri; S Saredi; C Scuderi; A Tessa; A Toscano; G Tortorella; C P Trevisan; C Uggetti; F M Santorelli; E Bertini; E Mercuri
Journal:  Neuromuscul Disord       Date:  2008-06-02       Impact factor: 4.296

Review 4.  Muscular dystrophies due to glycosylation defects.

Authors:  Francesco Muntoni; Silvia Torelli; Martin Brockington
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

5.  Genes required for functional glycosylation of dystroglycan are conserved in zebrafish.

Authors:  Christopher J Moore; Huey Tse Goh; Jane E Hewitt
Journal:  Genomics       Date:  2008-07-15       Impact factor: 5.736

6.  Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Authors:  Ute Hehr; Goekhan Uyanik; Claudia Gross; Maggie C Walter; Axel Bohring; Monika Cohen; Barbara Oehl-Jaschkowitz; Lynne M Bird; Ghiat M Shamdeen; Ulrich Bogdahn; Gerhard Schuierer; Haluk Topaloglu; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler
Journal:  Neurogenetics       Date:  2007-09-29       Impact factor: 2.660

Review 7.  O-Mannosylation and human disease.

Authors:  Christina M Dobson; Samuel J Hempel; Stephanie H Stalnaker; Ryan Stuart; Lance Wells
Journal:  Cell Mol Life Sci       Date:  2012-11-01       Impact factor: 9.261

8.  Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation.

Authors:  Shigeru Sato; Yoshihiro Omori; Kimiko Katoh; Mineo Kondo; Motoi Kanagawa; Kentaro Miyata; Kazuo Funabiki; Toshiyuki Koyasu; Naoko Kajimura; Tomomitsu Miyoshi; Hajime Sawai; Kazuhiro Kobayashi; Akiko Tani; Tatsushi Toda; Jiro Usukura; Yasuo Tano; Takashi Fujikado; Takahisa Furukawa
Journal:  Nat Neurosci       Date:  2008-07-20       Impact factor: 24.884

9.  Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Authors:  Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Steve Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Journal:  Arch Neurol       Date:  2008-01

10.  Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Authors:  M Chiara Manzini; Danielle Gleason; Bernard S Chang; R Sean Hill; Brenda J Barry; Jennifer N Partlow; Annapurna Poduri; Sophie Currier; Patricia Galvin-Parton; Lawrence R Shapiro; Karen Schmidt; Jessica G Davis; Lina Basel-Vanagaite; Mohamed Z Seidahmed; Mustafa A M Salih; William B Dobyns; Christopher A Walsh
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878
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  38 in total

1.  Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Authors:  Goknur Haliloglu; Beril Talim; Cigdem Genc Sel; Haluk Topaloglu
Journal:  J Inherit Metab Dis       Date:  2015-06-12       Impact factor: 4.982

2.  Thematic minireview series on glycobiology and extracellular matrices: glycan functions pervade biology at all levels.

Authors:  Gerald W Hart
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

3.  Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.

Authors:  Hirokazu Yagi; Chu-Wei Kuo; Takayuki Obayashi; Satoshi Ninagawa; Kay-Hooi Khoo; Koichi Kato
Journal:  Mol Cell Proteomics       Date:  2016-09-06       Impact factor: 5.911

4.  Tmem2 regulates cell-matrix interactions that are essential for muscle fiber attachment.

Authors:  Lucile Ryckebüsch; Lydia Hernandez; Carole Wang; Jenny Phan; Deborah Yelon
Journal:  Development       Date:  2016-07-28       Impact factor: 6.868

5.  Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.

Authors:  Tobias Geis; Klaus Marquard; Tanja Rödl; Christof Reihle; Sophie Schirmer; Thekla von Kalle; Antje Bornemann; Ute Hehr; Markus Blankenburg
Journal:  Neurogenetics       Date:  2013-09-20       Impact factor: 2.660

6.  Protein O-Mannosyltransferases Affect Sensory Axon Wiring and Dynamic Chirality of Body Posture in the Drosophila Embryo.

Authors:  Ryan Baker; Naosuke Nakamura; Ishita Chandel; Brooke Howell; Dmitry Lyalin; Vladislav M Panin
Journal:  J Neurosci       Date:  2017-11-22       Impact factor: 6.167

7.  Novel roles for O-linked glycans in protein folding.

Authors:  Deepika Vasudevan; Robert S Haltiwanger
Journal:  Glycoconj J       Date:  2014-10       Impact factor: 2.916

Review 8.  Recent advancements in understanding mammalian O-mannosylation.

Authors:  M Osman Sheikh; Stephanie M Halmo; Lance Wells
Journal:  Glycobiology       Date:  2017-09-01       Impact factor: 4.313

9.  Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

Authors:  Kunil K Raval; Ran Tao; Brent E White; Willem J De Lange; Chad H Koonce; Junying Yu; Priya S Kishnani; James A Thomson; Deane F Mosher; John C Ralphe; Timothy J Kamp
Journal:  J Biol Chem       Date:  2014-12-08       Impact factor: 5.157

Review 10.  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
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