PXD028042

PXD028042 is an original dataset announced via ProteomeXchange.

Title	Mosaic PKHD1 variants in polycystic kidney caused aberrant protein profiling of mitochondria and lysosomes
Description	Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease mainly caused by PKHD1. However, its genetic cause, pathological features, and mechanism remained unsolved. Our findings may provide new insight on the pathophysiology of the polycystic kidney due to PKHD1 deficiency, and the PKHD1 mosaicism needs to be taken close attention in genetic testing of ARPKD.
HostingRepository	iProX
AnnounceDate	2021-08-20
AnnouncementXML	Submission_2022-11-16_20:36:10.033.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Chengxian Xu
SpeciesList	scientific name: Homo sapiens; NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF-X

Revision	Datetime	Status	ChangeLog Entry
0	2021-08-19 23:57:07	ID requested
⏵ 1	2022-11-16 20:36:10	announced

Xu C, Yang C, Ye Q, Xu J, Tong L, Zhang Y, Shen H, Lu Z, Wang J, Lai E, Mao J, Jiang P, in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes. Front Med (Lausanne), 8():743150(2021) [pubmed]

submitter keyword: ARPKD, PKHD1, Exosome, Lysosome, Mosaicism, Mitochondria

Pingping Jiang
contact affiliation	Department of Human Genetics, Zhejiang University School of Medicine
contact email	ppjiang@zju.edu.cn
lab head
Chengxian Xu
contact affiliation	The Children’s Hospital, Zhejiang University School of Medicine
contact email	xu.chengxian@163.com
dataset submitter

iProX dataset URI