Literature DB >> 28969388

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Mert Karakaya1, Neda Mazaheri2,3, Ipek Polat4, Diana Bharucha-Goebel5,6, Sandra Donkervoort5, Reza Maroofian7,8, Gholamreza Shariati3,9, Irmgard Hoelker1, Kristin Monaghan10, Sara Winchester11, Robert Zori12, Hamid Galehdari2, Carsten G Bönnemann5, Uluc Yis4, Brunhilde Wirth1.   

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Year:  2017        PMID： 28969388      PMCID： PMC6272822          DOI： 10.1093/brain/awx222

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


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  9 in total

1.  Structure, expression, and chromosomal localization of the human gene encoding a germinal center-associated nuclear protein (GANP) that associates with MCM3 involved in the initiation of DNA replication.

Authors:  E Abe; K Kuwahara; M Yoshida; M Suzuki; H Terasaki; Y Matsuo; E I Takahashi; N Sakaguchi
Journal:  Gene       Date:  2000-09-19       Impact factor: 3.688

2.  MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Authors:  Emil Ylikallio; Rosa Woldegebriel; Manuela Tumiati; Pirjo Isohanni; Monique M Ryan; Zornitza Stark; Maie Walsh; Sarah L Sawyer; Katrina M Bell; Alicia Oshlack; Paul J Lockhart; Mariia Shcherbii; Alejandro Estrada-Cuzcano; Derek Atkinson; Taila Hartley; Martine Tetreault; Inge Cuppen; W Ludo van der Pol; Ayse Candayan; Esra Battaloglu; Yesim Parman; Koen L I van Gassen; Marie-José H van den Boogaard; Kym M Boycott; Liisa Kauppi; Albena Jordanova; Tuula Lönnqvist; Henna Tyynismaa
Journal:  Brain       Date:  2017-08-01       Impact factor: 13.501

3.  Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Authors:  Janneke H M Schuurs-Hoeijmakers; Anneke T Vulto-van Silfhout; Lisenka E L M Vissers; Ilse I G M van de Vondervoort; Bregje W M van Bon; Joep de Ligt; Christian Gilissen; Jayne Y Hehir-Kwa; Kornelia Neveling; Marisol del Rosario; Gausiya Hira; Santina Reitano; Aurelio Vitello; Pinella Failla; Donatella Greco; Marco Fichera; Ornella Galesi; Tjitske Kleefstra; Marie T Greally; Charlotte W Ockeloen; Marjolein H Willemsen; Ernie M H F Bongers; Irene M Janssen; Rolph Pfundt; Joris A Veltman; Corrado Romano; Michèl A Willemsen; Hans van Bokhoven; Han G Brunner; Bert B A de Vries; Arjan P M de Brouwer
Journal:  J Med Genet       Date:  2013-10-11       Impact factor: 6.318

4.  MCM3AP, a novel acetyltransferase that acetylates replication protein MCM3.

Authors:  Y Takei; M Swietlik; A Tanoue; G Tsujimoto; T Kouzarides; R Laskey
Journal:  EMBO Rep       Date:  2001-02       Impact factor: 8.807

5.  The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3.

Authors:  Yoshinori Takei; Magdalena Assenberg; Gozoh Tsujimoto; Ronald Laskey
Journal:  J Biol Chem       Date:  2002-09-10       Impact factor: 5.157

6.  GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Authors:  Nara Sobreira; François Schiettecatte; David Valle; Ada Hamosh
Journal:  Hum Mutat       Date:  2015-08-13       Impact factor: 4.878

7.  Decreased expression of germinal center-associated nuclear protein is involved in chromosomal instability in malignant gliomas.

Authors:  Kazutaka Ohta; Kazuhiko Kuwahara; Zhenhuan Zhang; Keishi Makino; Yoshihiro Komohara; Hideo Nakamura; Jun-ichi Kuratsu; Nobuo Sakaguchi
Journal:  Cancer Sci       Date:  2009-07-21       Impact factor: 6.716

8.  mRNA export from mammalian cell nuclei is dependent on GANP.

Authors:  Vihandha O Wickramasinghe; Paul I A McMurtrie; Anthony D Mills; Yoshinori Takei; Sue Penrhyn-Lowe; Yoko Amagase; Sarah Main; Jackie Marr; Murray Stewart; Ronald A Laskey
Journal:  Curr Biol       Date:  2009-12-10       Impact factor: 10.834

9.  The SAC3 gene encodes a nuclear protein required for normal progression of mitosis.

Authors:  A Bauer; R Kölling
Journal:  J Cell Sci       Date:  1996-06       Impact factor: 5.285
  9 in total
  2 in total

1.  Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Authors:  Nicole J Van Bergen; Katrina M Bell; Kirsty Carey; Russell Gear; Sean Massey; Edward K Murrell; Lyndon Gallacher; Kate Pope; Paul J Lockhart; Andrew Kornberg; Lynn Pais; Marzena Walkiewicz; Cas Simons; Vihandha O Wickramasinghe; Susan M White; John Christodoulou
Journal:  Hum Mol Genet       Date:  2022-02-03       Impact factor: 5.121

2.  Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Authors:  Rosa Woldegebriel; Jouni Kvist; Noora Andersson; Katrin Õunap; Karit Reinson; Monica H Wojcik; Emilia K Bijlsma; Mariëtte J V Hoffer; Monique M Ryan; Zornitza Stark; Maie Walsh; Inge Cuppen; Marie-Jose H van den Boogaard; Diana Bharucha-Goebel; Sandra Donkervoort; Sara Winchester; Roberto Zori; Carsten G Bönnemann; Reza Maroofian; Emer O'Connor; Henry Houlden; Fang Zhao; Olli Carpén; Matthew White; Jemeen Sreedharan; Murray Stewart; Emil Ylikallio; Henna Tyynismaa
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150
  2 in total

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