Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 6

1.

A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain.

Dhekne HS, Yanatori I, Gomez RC, Tonelli F, Diez F, Schüle B, Steger M, Alessi DR, Pfeffer SR.

Elife. 2018 Nov 6;7. pii: e40202. doi: 10.7554/eLife.40202.

2.

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS, Pylypenko O, Overeem AW, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, Swertz MA, Houdusse A, van IJzendoorn SCD.

Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Erratum in: Hum Mutat. 2018 Oct;39(10):1468.

3.

Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

Purlyte E, Dhekne HS, Sarhan AR, Gomez R, Lis P, Wightman M, Martinez TN, Tonelli F, Pfeffer SR, Alessi DR.

EMBO J. 2018 Jan 4;37(1):1-18. doi: 10.15252/embj.201798099. Epub 2017 Dec 6.

4.

Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.

Steger M, Diez F, Dhekne HS, Lis P, Nirujogi RS, Karayel O, Tonelli F, Martinez TN, Lorentzen E, Pfeffer SR, Alessi DR, Mann M.

Elife. 2017 Nov 10;6. pii: e31012. doi: 10.7554/eLife.31012.

5.

Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes.

Dhekne HS, Hsiao NH, Roelofs P, Kumari M, Slim CL, Rings EH, van Ijzendoorn SC.

J Cell Sci. 2014 Mar 1;127(Pt 5):1007-17. doi: 10.1242/jcs.137273. Epub 2014 Jan 10.

6.

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

van der Velde KJ, Dhekne HS, Swertz MA, Sirigu S, Ropars V, Vinke PC, Rengaw T, van den Akker PC, Rings EH, Houdusse A, van Ijzendoorn SC.

Hum Mutat. 2013 Dec;34(12):1597-605. doi: 10.1002/humu.22440. Epub 2013 Oct 16. Review.

PMID:
24014347

Supplemental Content

Loading ...
Support Center