A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR-encoded, aggregation-inducing motif-Reference-Cited by-同舟云学术

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A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR-encoded, aggregation-inducing motif

Published:2017-11-27 Issue:2 Volume:39 Page:193-196
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bock Andrea S.¹,Günther Sven¹,Mohr Julia²,Goldberg Lisa V.¹,Jahic Amir¹,Klisch Cornelia³,Hübner Christian A.⁴,Biskup Saskia²,Beetz Christian¹^ORCID

Affiliation:

1. Department of Clinical Chemistry and Laboratory Medicine; Jena University Hospital; Jena Germany

2. CeGaT GmbH und Praxis für Humangenetik; Tübingen Germany

3. Neurologische Praxis Klisch; Erfurt Germany

4. Department of Human Genetics; Jena University Hospital; Jena Germany

Funder

Tom-Wahlig-Stiftung

Stiftung Pathobiochemie und Molekulare Diagnostik

Interdisziplinäres Zentrum für Klinische Forschung Jena

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation;Auer-Grumbach;Annals of Neurology,2005

2. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V;Beetz;American Journal of Human Genetics,2012

3. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31;Beetz;Brain,2008

4. Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology;Falk;Human Mutation,2014

5. Hereditary spastic paraplegia: Clinical principles and genetic advances;Fink;Seminars in Neurology,2014

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3. Mechanisms of readthrough mitigation reveal principles of GCN1-mediated translational quality control;Cell;2023-07

4. Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss;European Journal of Human Genetics;2023-05-12

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