Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families-Reference-Cited by-同舟云学术

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Published:2012-01-03 Issue:1 Volume:7 Page:e29729
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Velinov Milen,Dolzhanskaya Natalia,Gonzalez Michael,Powell Eric,Konidari Ioanna,Hulme William,Staropoli John F.,Xin Winnie,Wen Guang Y.,Barone Rosemary,Coppel Scott H.,Sims Katherine,Brown W. Ted,Züchner Stephan

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference9 articles.

1. Neuronal ceroid lipofuscinoses therapeutic strategies: Past, present and future.;JA Hobert;Biochem Biophys Acta,2006

2. Neuronal Ceroid Lipofuscinoses.;SE Mole,2010

3. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.;T Arsov;Am J Hum Genet,2011

4. Mutations in DNAJC5, encoding cysteine string protein alpha, cause autosomal-dominant adult onset Neuronal Ceroid Lipofuscinosis.;L Noskova;Am J Hum Genet,2011

5. A dominant form of Neuronal Ceroid Lipofuscinosis.;DH Boehme;Brain,1971

Cited by 71 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. Proximity labelling reveals effects of disease-causing mutation on the DNAJC5/cysteine string protein α interactome;Biochemical Journal;2024-01-29

2. Cysteine String Protein alpha in Extracellular Vesicle Subtypes: a Proteomic Analysis;2023-12-13

3. Decoding transcriptomic signatures of Cysteine String Protein alpha-mediated synapse maintenance;2023-10-03

4. L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration;Molecular Neurobiology;2023-08-11

5. Neuronal lipofuscinosis caused by Kufs disease/CLN4DNAJC5mutations but not by a CSPα/DNAJC5 deficiency;2023-05-11