Literature DB >> 27343256

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Megan S Kane1, Thierry Vilboux2, Lynne A Wolfe3, Paul R Lee4, Yupeng Wang1, Kathi C Huddleston1, Joseph G Vockley5, John E Niederhuber6, Benjamin D Solomon7.   

Abstract

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Year:  2016        PMID： 27343256      PMCID： PMC5841196          DOI： 10.1093/brain/aww135

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  16 in total

Review 1.  A perfect message: RNA surveillance and nonsense-mediated decay.

Authors:  M W Hentze; A E Kulozik
Journal:  Cell       Date:  1999-02-05       Impact factor: 41.582

Review 2.  Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function.

Authors:  Olaf Isken; Lynne E Maquat
Journal:  Genes Dev       Date:  2007-08-01       Impact factor: 11.361

Review 3.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.

Authors:  E Nagy; L E Maquat
Journal:  Trends Biochem Sci       Date:  1998-06       Impact factor: 13.807

4.  Improved splice site detection in Genie.

Authors:  M G Reese; F H Eeckman; D Kulp; D Haussler
Journal:  J Comput Biol       Date:  1997       Impact factor: 1.479

5.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

6.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

7.  Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.

Authors:  R Hamid; L K Hedges; E Austin; J A Phillips; J E Loyd; J D Cogan
Journal:  Clin Genet       Date:  2010-01-20       Impact factor: 4.438

8.  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Authors:  Susan Byrne; Lara Jansen; Jean-Marie U-King-Im; Ata Siddiqui; Hart G W Lidov; Istvan Bodi; Luke Smith; Rachael Mein; Thomas Cullup; Carlo Dionisi-Vici; Lihadh Al-Gazali; Mohammed Al-Owain; Zandre Bruwer; Khalid Al Thihli; Rana El-Garhy; Kevin M Flanigan; Kandamurugu Manickam; Erik Zmuda; Wesley Banks; Ruth Gershoni-Baruch; Hanna Mandel; Efrat Dagan; Annick Raas-Rothschild; Hila Barash; Francis Filloux; Donnell Creel; Michael Harris; Ada Hamosh; Stefan Kölker; Darius Ebrahimi-Fakhari; Georg F Hoffmann; David Manchester; Philip J Boyer; Adnan Y Manzur; Charles Marques Lourenco; Daniela T Pilz; Arveen Kamath; Prab Prabhakar; Vamshi K Rao; R Curtis Rogers; Monique M Ryan; Natasha J Brown; Catriona A McLean; Edith Said; Ulrike Schara; Anja Stein; Caroline Sewry; Laura Travan; Frits A Wijburg; Martin Zenker; Shehla Mohammed; Manolis Fanto; Mathias Gautel; Heinz Jungbluth
Journal:  Brain       Date:  2016-03       Impact factor: 13.501

9.  Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Authors:  Dale L Bodian; Justine N McCutcheon; Prachi Kothiyal; Kathi C Huddleston; Ramaswamy K Iyer; Joseph G Vockley; John E Niederhuber
Journal:  PLoS One       Date:  2014-04-11       Impact factor: 3.240

10.  Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Authors:  Dale L Bodian; Elisabeth Klein; Ramaswamy K Iyer; Wendy S W Wong; Prachi Kothiyal; Daniel Stauffer; Kathi C Huddleston; Amber D Gaither; Irina Remsburg; Alina Khromykh; Robin L Baker; George L Maxwell; Joseph G Vockley; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2015-09-03       Impact factor: 8.822
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  7 in total

1.  The epg5 knockout zebrafish line: a model to study Vici syndrome.

Authors:  Giacomo Meneghetti; Tatjana Skobo; Martina Chrisam; Nicola Facchinello; Camilla Maria Fontana; Stefania Bellesso; Patrizia Sabatelli; Flavia Raggi; Francesco Cecconi; Paolo Bonaldo; Luisa Dalla Valle
Journal:  Autophagy       Date:  2019-03-17       Impact factor: 16.016

2.  The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Authors:  E Piano Mortari; V Folgiero; V Marcellini; P Romania; E Bellacchio; V D'Alicandro; C Bocci; R Carrozzo; D Martinelli; S Petrini; E Axiotis; C Farroni; F Locatelli; U Schara; D T Pilz; H Jungbluth; C Dionisi-Vici; R Carsetti
Journal:  Autophagy       Date:  2018-01-02       Impact factor: 16.016

3.  Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.

Authors:  Sung-Eun Nam; Yiu Wing Sunny Cheung; Thanh Ngoc Nguyen; Michael Gong; Samuel Chan; Michael Lazarou; Calvin K Yip
Journal:  Commun Biol       Date:  2021-03-05

4.  Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

Authors:  Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh
Journal:  Sci Rep       Date:  2017-06-14       Impact factor: 4.379

5.  epg5 knockout leads to the impairment of reproductive success and courtship behaviour in a zebrafish model of autophagy-related diseases.

Authors:  Camilla M Fontana; Lisa Locatello; Patrizia Sabatelli; Nicola Facchinello; Elisa Lidron; Francesca Maradonna; Oliana Carnevali; Maria B Rasotto; Luisa Dalla Valle
Journal:  Biomed J       Date:  2021-04-20       Impact factor: 7.892

6.  Vici syndrome in Israel: Clinical and molecular insights.

Authors:  Odelia Chorin; Yoel Hirsch; Rachel Rock; Liat Salzer Sheelo; Yael Goldberg; Hanna Mandel; Tova Hershkovitz; Nicole Fleischer; Lior Greenbaum; Uriel Katz; Ortal Barel; Nasrin Hamed; Bruria Ben-Zeev; Shoshana Greenberger; Nadra Nasser Samra; Michal Stern Zimmer; Annick Raas-Rothschild; Ben Pode-Shakked
Journal:  Front Genet       Date:  2022-09-20       Impact factor: 4.772

7.  The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Authors:  Celine Deneubourg; Mauricio Ramm; Luke J Smith; Olga Baron; Kritarth Singh; Susan C Byrne; Michael R Duchen; Mathias Gautel; Eeva-Liisa Eskelinen; Manolis Fanto; Heinz Jungbluth
Journal:  Autophagy       Date:  2021-08-19       Impact factor: 13.391
  7 in total

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