Literature DB >> 30414910

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

Damian J Ralser1, Hideyuki Takeuchi2, Günter Fritz3, F Buket Basmanav4, Maike Effern5, Sugirthan Sivalingam1, Laila El-Shabrawi-Caelen6, Ece N Degirmentepe7, Emek Kocatürk7, Manuraj Singh8, Nina Booken9, Natalia M K Spierings10, Viktor Schnabel11, Andre Heineke12, Jana Knuever13, Sabrina Wolf1, Maria Wehner1, Michael Tronnier12, Martin Leverkus14, Iliana Tantcheva-Poór13, Jörg Wenzel15, Vinzenz Oji16, Cristina Has17, Michael Hölzel18, Jorge Frank11, Robert S Haltiwanger19, Regina C Betz20.   

Abstract

Entities:  

Year:  2018        PMID: 30414910      PMCID: PMC6431572          DOI: 10.1016/j.jid.2018.10.030

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  15 in total

Review 1.  The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology.

Authors:  Akinori Kawakami; David E Fisher
Journal:  Lab Invest       Date:  2017-03-06       Impact factor: 5.662

2.  Site-specific O-glucosylation of the epidermal growth factor-like (EGF) repeats of notch: efficiency of glycosylation is affected by proper folding and amino acid sequence of individual EGF repeats.

Authors:  Hideyuki Takeuchi; Joshua Kantharia; Maya K Sethi; Hans Bakker; Robert S Haltiwanger
Journal:  J Biol Chem       Date:  2012-08-07       Impact factor: 5.157

3.  Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.

Authors:  Hideyuki Takeuchi; Rodrigo C Fernández-Valdivia; Devin S Caswell; Aleksandra Nita-Lazar; Nadia A Rana; Thomas P Garner; Thomas K Weldeghiorghis; Megan A Macnaughtan; Hamed Jafar-Nejad; Robert S Haltiwanger
Journal:  Proc Natl Acad Sci U S A       Date:  2011-09-26       Impact factor: 11.205

4.  Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Authors:  Damian J Ralser; F Buket Ü Basmanav; Aylar Tafazzoli; Jade Wititsuwannakul; Sarah Delker; Sumita Danda; Holger Thiele; Sabrina Wolf; Michélle Busch; Susanne A Pulimood; Janine Altmüller; Peter Nürnberg; Didier Lacombe; Uwe Hillen; Jörg Wenzel; Jorge Frank; Benjamin Odermatt; Regina C Betz
Journal:  J Clin Invest       Date:  2017-03-13       Impact factor: 14.808

Review 5.  The roles of microphthalmia-associated transcription factor and pigmentation in melanoma.

Authors:  Jennifer J Hsiao; David E Fisher
Journal:  Arch Biochem Biophys       Date:  2014-08-09       Impact factor: 4.013

6.  Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Authors:  F Buket Basmanav; Ana-Maria Oprisoreanu; Sandra M Pasternack; Holger Thiele; Günter Fritz; Jörg Wenzel; Leopold Größer; Maria Wehner; Sabrina Wolf; Christina Fagerberg; Anette Bygum; Janine Altmüller; Arno Rütten; Laurent Parmentier; Laila El Shabrawi-Caelen; Christian Hafner; Peter Nürnberg; Roland Kruse; Susanne Schoch; Sandra Hanneken; Regina C Betz
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

7.  Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

Authors:  Ming Li; Ruhong Cheng; Jianying Liang; Heng Yan; Hui Zhang; Lijia Yang; Chengrang Li; Qingqing Jiao; Zhiyong Lu; Jianhui He; Jin Ji; Zhu Shen; Chunqi Li; Fei Hao; Hong Yu; Zhirong Yao
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

8.  Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Authors:  Regina C Betz; Laura Planko; Sibylle Eigelshoven; Sandra Hanneken; Sandra M Pasternack; Heinrich Bussow; Kris Van Den Bogaert; Joerg Wenzel; Markus Braun-Falco; Arno Rutten; Michael A Rogers; Thomas Ruzicka; Markus M Nöthen; Thomas M Magin; Roland Kruse
Journal:  Am J Hum Genet       Date:  2006-01-19       Impact factor: 11.025

9.  Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

Authors:  F Buket Basmanav; Günter Fritz; Gilles G Lestringant; Divya Pachat; Sabine Hoffjan; Johannes Fischer; Maria Wehner; Sabrina Wolf; Holger Thiele; Janine Altmüller; Susanne A Pulimood; Arno Rütten; Roland Kruse; Sandra Hanneken; Jorge Frank; Sumita Danda; Anette Bygum; Regina C Betz
Journal:  J Invest Dermatol       Date:  2014-09-17       Impact factor: 8.551

10.  Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling.

Authors:  Melih Acar; Hamed Jafar-Nejad; Hideyuki Takeuchi; Akhila Rajan; Dafina Ibrani; Nadia A Rana; Hongling Pan; Robert S Haltiwanger; Hugo J Bellen
Journal:  Cell       Date:  2008-01-25       Impact factor: 41.582

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  4 in total

1.  Other Types of Glycosylation.

Authors:  Yohei Tsukamoto; Hideyuki Takeuchi
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 3.650

2.  POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Authors:  E Servián-Morilla; M Cabrera-Serrano; K Johnson; A Pandey; A Ito; E Rivas; T Chamova; N Muelas; T Mongini; S Nafissi; K G Claeys; R P Grewal; M Takeuchi; H Hao; C Bönnemann; O Lopes Abath Neto; L Medne; J Brandsema; A Töpf; A Taneva; J J Vilchez; I Tournev; R S Haltiwanger; H Takeuchi; H Jafar-Nejad; V Straub; Carmen Paradas
Journal:  Acta Neuropathol       Date:  2020-01-03       Impact factor: 17.088

Review 3.  Multifaceted regulation of Notch signaling by glycosylation.

Authors:  Ashutosh Pandey; Nima Niknejad; Hamed Jafar-Nejad
Journal:  Glycobiology       Date:  2021-01-09       Impact factor: 4.313

Review 4.  Structure, function, and pathology of protein O-glucosyltransferases.

Authors:  Muhammad Zubair Mehboob; Minglin Lang
Journal:  Cell Death Dis       Date:  2021-01-12       Impact factor: 8.469

  4 in total

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