REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia-Reference-Cited by-同舟云学术

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

Published:2021-05-10 Issue:9 Volume:6 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Cunha Dulce Lima^ORCID,Richardson Rose,Tracey-White Dhani,Abbouda Alessandro,Mitsios Andreas,der Sluis Verena Horneffer-van^ORCID,Takis Panteleimon,Owen Nicholas^ORCID,Skinner Jane,Welch Ailsa A.,Moosajee Mariya^ORCID

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/146934/files/pdf

Reference68 articles.

1. Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

2. Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments;Mitsios;Ther Adv Ophthalmol,2018

3. Clinical utility gene card for: Choroideremia

4. Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

5. Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia

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