PuSH - Publication Server of Helmholtz Zentrum München

13 Records found.
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1.
Oud, M.M.* et al.: Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281-296 (2017)
2.
Boldt, K.* et al.: An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat. Commun. 7:11491 (2016)
3.
Benmerah, A.* et al.: The more we know, the more we have to discover: An exciting future for understanding cilia and ciliopathies. Cilia 4, 1:5 (2015)
4.
Wheway, G.* et al.: An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat. Cell Biol. 17, 1074-1087 (2015)
5.
Texier, Y. et al.: Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry. Mol. Cell. Proteomics 13, 1382-1391 (2014)
6.
Cevik, S.* et al.: Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet. 9:e1003977 (2013)
7.
Hoff, S.* et al.: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat. Genet. 45, 951-956 (2013)
8.
Roosing, S.* et al.: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117 (2013)
9.
Boldt, K. et al.: Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J. Clin. Invest. 121, 2169-2180 (2011)
10.
Coene, K.L.* et al.: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum. Mol. Genet. 20, 3592-3605 (2011)
11.
Boldt, K. ; van Reeuwijk, J.* ; Gloeckner, C.J. ; Ueffing, M. & Roepman, R.*: Tandem affinity purification of ciliopathy-associated protein complexes. Methods Cell Biol. 91, 143-160 (2009)
12.
den Hollander, A.I.* et al.: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat. Genet. 39, 889-895 (2007)
13.
Gloeckner, C.J. ; Boldt, K. ; Schumacher, A. ; Roepman, R.* & Ueffing, M.: A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Proteomics 7, 4228-4234 (2007)