A Novel Nonsense Mutation in DNAJC 6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease-Reference-Cited by-同舟云学术

A Novel Nonsense Mutation in DNAJC 6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

Published:2016-01-19 Issue:2 Volume:79 Page:335-337
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Elsayed Liena Elbaghir Omer¹²³,Drouet Valérie¹,Usenko Tatiana¹,Mohammed Inaam N.³,Hamed Ahlam AbdAlrahman Ahmed³,Elseed Maha Abdelmoneim³,Salih Mustafa A.M.⁴,Koko Mahmoud Eltayeb⁵,Mohamed Ashraf Yahia Osman⁶,Siddig Rayan Abubaker⁷,Elbashir Mustafa Idris³,Ibrahim Muntaser Eltayeb⁵,Durr Alexandra¹⁸,Stevanin Giovanni¹²⁸,Lesage Suzanne¹,Ahmed Ammar Eltahir³,Brice Alexis¹⁸

Affiliation:

1. Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière; Paris France

2. Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM; Paris France

3. Faculty of Medicine; University of Khartoum; Khartoum Sudan

4. Division of Pediatric Neurology; Department of Pediatrics; College of Medicine, King Saud University; Riyadh Saudi Arabia

5. Department of Molecular Biology; Institute of Endemic Diseases, University of Khartoum; Khartoum Sudan

6. Department of Biochemistry; Faculty of Medicine, National University; Khartoum Sudan

7. Faculty of Science; University of Elneelen; Khartoum Sudan

8. APHP; Department of Genetics; Pitié-Salpêtrière Hospital; Paris France

Funder

France-Parkinson Association

Agence Nationale de la Recherche (SPATAX-QUEST project)

Verum Foundation

Roger de Spoelberg Foundation (R12123DD)

French Academy of Sciences

European Union (Neuromics projects, OMICS call)

European Joint Programme - Neurodegenerative Disease Research (JPND-COURAGE-PD)

Programme d'Investissement d'Avenir IHU-A-ICM (ANR-10-IAIHU-06)

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference3 articles.

1. DNAJC6 mutations associated with early-onset Parkinson's disease;Olgiati;Ann Neurol,2015

2. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism;Edvardson;PLoS One,2012

3. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability;Köroğlu;Parkinsonism Relat Disord,2013

Cited by 64 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. The role of molecular chaperones in the mechanisms of epileptogenesis;Cell Stress and Chaperones;2023-11

2. Pain in monogenic Parkinson’s disease: a comprehensive review;Frontiers in Neurology;2023-10-30

3. α‐Synuclein induces deficiency in clathrin‐mediated endocytosis through inhibiting synaptojanin1 expression;Journal of Neurochemistry;2023-10-03

4. Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease;Nature Communications;2023-09-18

5. Cyclin-G-associated kinase GAK/dAux regulates autophagy initiation via ULK1/Atg1 in glia;Proceedings of the National Academy of Sciences;2023-07-10