Literature DB >> 25488817

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Alejandro Leal1, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera, Gerardo Del Valle, James R Lupski, Arif Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrantes, Corinna Berghoff, Martin Berghoff, Bernhard Neundörfer, Dieter Heuss, Thomas Dorn, Peter Young, Lisa Santolin, Thomas Uhlmann, Michael Meisterernst, Michael Werner Sereda, Ruth Martha Stassart, Gerd Meyer Zu Horste, Klaus-Armin Nave, André Reis, Bernd Rautenstrauss.   

Abstract

Entities:  

Year:  2009        PMID: 25488817      PMCID: PMC2847162          DOI: 10.1007/s10048-009-0213-1

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


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Erratum to: Neurogenetics DOI 10.1007/s10048-009-0183-3 The original version of this article unfortunately contained two mistakes. The name of the 23rd author was not presented correctly, “Michael Sereda” should be “Michael Werner Sereda,” and Ruth Martha Stassart was not listed among the authors.
  2 in total

1.  Increased unfolded protein responses caused by MED17 mutations.

Authors:  Takeshi Terabayashi; Satoru Hashimoto
Journal:  Neurogenetics       Date:  2021-08-15       Impact factor: 2.660

2.  The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

Authors:  Alejandro Leal; Sixto Bogantes-Ledezma; Arif B Ekici; Steffen Uebe; Christian T Thiel; Heinrich Sticht; Martin Berghoff; Corinna Berghoff; Bernal Morera; Michael Meisterernst; André Reis
Journal:  Neurogenetics       Date:  2018-07-24       Impact factor: 2.660

  2 in total

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