Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2-Reference-Cited by-同舟云学术

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Published:2007-12-23 Issue:1 Volume:40 Page:32-34
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Kornak Uwe, ,Reynders Ellen,Dimopoulou Aikaterini,van Reeuwijk Jeroen,Fischer Bjoern,Rajab Anna,Budde Birgit,Nürnberg Peter,Foulquier Francois,Lefeber Dirk,Urban Zsolt,Gruenewald Stephanie,Annaert Wim,Brunner Han G,van Bokhoven Hans,Wevers Ron,Morava Eva,Matthijs Gert,Van Maldergem Lionel,Mundlos Stefan

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2007.45.pdf

Reference15 articles.

1. Freeze, H.H. Nat. Rev. Genet. 7, 537–551 (2006).

2. Wu, X. et al. Nat. Med. 10, 518–523 (2004).

3. Foulquier, F. et al. Hum. Mol. Genet. 16, 717–730 (2007).

4. Foulquier, F. et al. Proc. Natl. Acad. Sci. USA 103, 3764–3769 (2006).

5. Rajab, A. et al. Am. J. Med. Genet. (in the press).

Cited by 316 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. Precise subcellular targeting approaches for organelle-related disorders;Advanced Drug Delivery Reviews;2024-09

2. Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2;Molecular Genetics and Genomics;2024-08-22

3. Golgi pH homeostasis stabilizes the lysosomal membrane throughN-glycosylation of membrane proteins;Life Science Alliance;2024-07-30

4. Epirubicin induces cardiotoxicity through disrupting ATP6V0A2-dependent lysosomal acidification and triggering ferroptosis in cardiomyocytes;Cell Death Discovery;2024-07-24

5. SHP-1 Variants Broaden the Understanding of pH-Dependent Activities in Protein Tyrosine Phosphatases;JACS Au;2024-07-17