Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing-Reference-Cited by-同舟云学术

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Published:2020-01-09 Issue:6 Volume:28 Page:783-789
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jedličková Ivana, ,Cadieux-Dion Maxime^ORCID,Přistoupilová Anna,Stránecký Viktor,Hartmannová Hana,Hodaňová Kateřina,Barešová Veronika,Hůlková Helena,Sikora Jakub^ORCID,Nosková Lenka,Mušálková Dita,Vyleťal Petr,Sovová Jana,Cossette Patrick,Andermann Eva,Andermann Frederick,Kmoch Stanislav

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0567-2.pdf

Reference26 articles.

1. Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet. 2011;89:241–52.

2. Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011;88:566–73.

3. Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013;22:1417–23.

4. Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet. 2012;90:1102–7.

5. van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, et al. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol. 2001;50:269–72.

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1. Decoding transcriptomic signatures of cysteine string protein alpha–mediated synapse maintenance;Proceedings of the National Academy of Sciences;2024-06-04

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

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

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

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