Literature DB >> 30388405

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux, Valentina Stanley, Andreea Manole, Ugur Akpulat, Marjan M Weiss, Stephanie Efthymiou, Michael G Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Peter Nürnberg, Holger Thiele, Uluc Yis, Tuncay Derya Okur, Ayse Ipek Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran B Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M van Hagen, Nicole I Wolf, Reza Maroofian, Henry Houlden, Sebahattin Cirak, Joseph G Gleeson.   

Abstract

Entities:  

Year:  2018        PMID： 30388405      PMCID： PMC6218605          DOI： 10.1016/j.ajhg.2018.10.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  6 in total

1.  Poly(ADP-ribose) drives condensation of FUS via a transient interaction.

Authors:  Kevin Rhine; Morgan Dasovich; Joseph Yoniles; Mohsen Badiee; Sophie Skanchy; Laura R Ganser; Yingda Ge; Charlotte M Fare; James Shorter; Anthony K L Leung; Sua Myong
Journal:  Mol Cell       Date:  2022-02-18       Impact factor: 19.328

2.  SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.

Authors:  Federica Banfi; Alicia Rubio; Mattia Zaghi; Luca Massimino; Giulia Fagnocchi; Edoardo Bellini; Mirko Luoni; Cinzia Cancellieri; Anna Bagliani; Chiara Di Resta; Camilla Maffezzini; Angelo Ianielli; Maurizio Ferrari; Rocco Piazza; Luca Mologni; Vania Broccoli; Alessandro Sessa
Journal:  Nat Commun       Date:  2021-06-30       Impact factor: 14.919

3.  ADP-ribosylation: from molecular mechanisms to human disease.

Authors:  Nicolas C Hoch; Luis M Polo
Journal:  Genet Mol Biol       Date:  2019-12-13       Impact factor: 1.771

4.  Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2.

Authors:  Aijun Lu; Chunxia Dong; Bihong Chen; Lei Xie; Huaiqiang Hu
Journal:  Front Neurol       Date:  2022-02-11       Impact factor: 4.003

5.  ADP-ribosylation of RNA and DNA: from in vitro characterization to in vivo function.

Authors:  Lisa Weixler; Katja Schäringer; Jeffrey Momoh; Bernhard Lüscher; Karla L H Feijs; Roko Žaja
Journal:  Nucleic Acids Res       Date:  2021-04-19       Impact factor: 16.971

6.  Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.

Authors:  Gianluca Piccolo; Giuseppe d'Annunzio; Elisabetta Amadori; Antonella Riva; Paola Borgia; Domenico Tortora; Mohamad Maghnie; Carlo Minetti; Eloisa Gitto; Michele Iacomino; Simona Baldassari; Chiara Fiorillo; Federico Zara; Pasquale Striano; Vincenzo Salpietro
Journal:  Front Neurol       Date:  2021-07-12       Impact factor: 4.003
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.