Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy-Reference-Cited by-同舟云学术

Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

Published:2020-06-14 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cerino Mathieu¹²³⁴^ORCID,Di Meglio Chloé⁵,Albertini Francesca⁵,Audic Frédérique⁵,Riccardi Florence¹²³,Boulay Christophe⁵,Philip Nicole¹²³,Bartoli Marc¹³^ORCID,Lévy Nicolas¹²³,Krahn Martin¹²³,Chabrol Brigitte³⁵

Affiliation:

1. Aix Marseille Univ Inserm, U1251‐MMG, Marseille Medical Genetics Marseille France

2. APHM, Hôpital Timone Enfants Département de Génétique Médicale Marseille France

3. GIPTIS (Genetics Institute for Patients, Therapies Innovation and Science)Marseille France

4. APHM, Hôpital de la Conception Laboratoire de Biochimie Marseille France

5. APHM, Hôpital Timone Enfants Service de Neurologie Pédiatrique Marseille France

Funder

AFM-Téléthon

FP7 Ideas: European Research Council

Agence Nationale de la Recherche

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1277

Reference26 articles.

1. An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms

2. A method and server for predicting damaging missense mutations

3. Control of mRNA Export and Translation Termination by Inositol Hexakisphosphate Requires Specific Interaction with Gle1

4. Inositol hexakisphosphate and Gle1 activate the DEAD-box protein Dbp5 for nuclear mRNA export

5. The mRNA Export Factor Gle1 and Inositol Hexakisphosphate Regulate Distinct Stages of Translation

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biallelic variants in GLE1 with survival beyond neonatal period;Clinical Genetics;2020-09-20