ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition-Reference-Cited by-同舟云学术

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Published:2018-10 Issue:4 Volume:103 Page:612-620
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Alkanderi Sumaya,Molinari Elisa,Shaheen Ranad,Elmaghloob Yasmin,Stephen Louise A.,Sammut Veronica,Ramsbottom Simon A.,Srivastava Shalabh,Cairns George,Edwards Noel,Rice Sarah J.,Ewida Nour,Alhashem Amal,White Kathryn,Miles Colin G.,Steel David H.,Alkuraya Fowzan S.,Ismail Shehab,Sayer John A.

Funder

Medical Research Council

Kidney Research UK

King Salman Center for Disability Research

King Abdulaziz City for Science and Technology

Saudi Human Genome Program

Northern Counties Kidney Research Fund

Cancer Research UK

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Ciliopathies;Hildebrandt;N. Engl. J. Med.,2011

2. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol.,2013

3. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies;Srivastava;Hum. Mol. Genet.,2017

4. Mutations in CSPP1 lead to classical Joubert syndrome;Akizu;Am. J. Hum. Genet.,2014

5. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome;Romani;Orphanet J. Rare Dis.,2014

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1. Mitochondrial functional impairment in ARL3‐mutation related rod‐cone dystrophy;FASEB BioAdvances;2024-09-09

2. DNAAF9 (Shulin) and ARL3 regulate the transport and activation of ciliary Outer Dynein Arms (ODAs);2024-08-16

3. Primary cilia mediate skeletogenic BMP and Hedgehog signaling in heterotopic ossification;Science Translational Medicine;2024-07-24

4. Proteins with proximal-distal asymmetries in axoneme localisation control flagellum beat frequency;2024-05-10

5. Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3^T31A and ARL3^T31A/C118F mutations;The FASEB Journal;2024-03-08

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