Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 90

1.

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F.

J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.

2.

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

Vogl C, Butola T, Haag N, Hausrat TJ, Leitner MG, Moutschen M, Lefèbvre PP, Speckmann C, Garrett L, Becker L, Fuchs H, Hrabe de Angelis M, Nietzsche S, Kessels MM, Oliver D, Kneussel M, Kilimann MW, Strenzke N.

EMBO Rep. 2017 Nov;18(11):2015-2029. doi: 10.15252/embr.201643689. Epub 2017 Sep 11.

PMID:
28893864
3.

The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.

Kurtenbach S, Gießl A, Strömberg S, Kremers J, Atorf J, Rasche S, Neuhaus EM, Hervé D, Brandstätter JH, Asan E, Hatt H, Kilimann MW.

Sci Rep. 2017 Aug 16;7(1):8409. doi: 10.1038/s41598-017-08543-4.

4.

Glycogen pathways in disease: new developments in a classical field of medical genetics.

Kilimann MW, Oldfors A.

J Inherit Metab Dis. 2015 May;38(3):483-7. doi: 10.1007/s10545-014-9785-5. Epub 2014 Nov 7. Review.

PMID:
25376534
5.

Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.

Héraud C, Griffiths A, Pandruvada SN, Kilimann MW, Pata M, Vacher J.

J Biol Chem. 2014 May 16;289(20):13912-25. doi: 10.1074/jbc.M113.537233. Epub 2014 Apr 9.

6.

Paralemmin-1 is expressed in lymphatic endothelial cells and modulates cell migration, cell maturation and tumor lymphangiogenesis.

Albrecht I, Bieri R, Leu A, Granacher P, Hagmann J, Kilimann MW, Christofori G.

Angiogenesis. 2013 Oct;16(4):795-807. doi: 10.1007/s10456-013-9356-7. Epub 2013 May 26.

PMID:
23709172
7.

Neurobeachin regulates neurotransmitter receptor trafficking to synapses.

Nair R, Lauks J, Jung S, Cooke NE, de Wit H, Brose N, Kilimann MW, Verhage M, Rhee J.

J Cell Biol. 2013 Jan 7;200(1):61-80. doi: 10.1083/jcb.201207113. Epub 2012 Dec 31.

8.

Evolution of the vertebrate paralemmin gene family: ancient origin of gene duplicates suggests distinct functions.

Hultqvist G, Ocampo Daza D, Larhammar D, Kilimann MW.

PLoS One. 2012;7(7):e41850. doi: 10.1371/journal.pone.0041850. Epub 2012 Jul 25.

9.

Paralemmin-1 is over-expressed in estrogen-receptor positive breast cancers.

Turk CM, Fagan-Solis KD, Williams KE, Gozgit JM, Smith-Schneider S, Marconi SA, Otis CN, Crisi GM, Anderton DL, Kilimann MW, Arcaro KF.

Cancer Cell Int. 2012 May 10;12(1):17. doi: 10.1186/1475-2867-12-17.

10.

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.

Olszewski PK, Rozman J, Jacobsson JA, Rathkolb B, Strömberg S, Hans W, Klockars A, Alsiö J, Risérus U, Becker L, Hölter SM, Elvert R, Ehrhardt N, Gailus-Durner V, Fuchs H, Fredriksson R, Wolf E, Klopstock T, Wurst W, Levine AS, Marcus C, de Angelis MH, Klingenspor M, Schiöth HB, Kilimann MW.

PLoS Genet. 2012;8(3):e1002568. doi: 10.1371/journal.pgen.1002568. Epub 2012 Mar 15.

11.

Dendritic spine formation and synaptic function require neurobeachin.

Niesmann K, Breuer D, Brockhaus J, Born G, Wolff I, Reissner C, Kilimann MW, Rohlmann A, Missler M.

Nat Commun. 2011 Nov 22;2:557. doi: 10.1038/ncomms1565.

12.

The trafficking proteins Vacuolar Protein Sorting 35 and Neurobeachin interact with the glycine receptor β-subunit.

del Pino I, Paarmann I, Karas M, Kilimann MW, Betz H.

Biochem Biophys Res Commun. 2011 Sep 2;412(3):435-40. doi: 10.1016/j.bbrc.2011.07.110. Epub 2011 Jul 29.

PMID:
21821005
13.

Molecular in situ topology of Aczonin/Piccolo and associated proteins at the mammalian neurotransmitter release site.

Limbach C, Laue MM, Wang X, Hu B, Thiede N, Hultqvist G, Kilimann MW.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):E392-401. doi: 10.1073/pnas.1101707108. Epub 2011 Jun 28.

14.

Spatiotemporal distribution and function of N-cadherin in postnatal Schwann cells: A matter of adhesion?

Corell M, Wicher G, Limbach C, Kilimann MW, Colman DR, Fex Svenningsen Å.

J Neurosci Res. 2010 Aug 15;88(11):2338-49. doi: 10.1002/jnr.22398.

PMID:
20623533
15.

A protein interaction node at the neurotransmitter release site: domains of Aczonin/Piccolo, Bassoon, CAST, and rim converge on the N-terminal domain of Munc13-1.

Wang X, Hu B, Zieba A, Neumann NG, Kasper-Sonnenberg M, Honsbein A, Hultqvist G, Conze T, Witt W, Limbach C, Geitmann M, Danielson H, Kolarow R, Niemann G, Lessmann V, Kilimann MW.

J Neurosci. 2009 Oct 7;29(40):12584-96. doi: 10.1523/JNEUROSCI.1255-09.2009.

16.

Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.

Medrihan L, Rohlmann A, Fairless R, Andrae J, Döring M, Missler M, Zhang W, Kilimann MW.

J Physiol. 2009 Nov 1;587(Pt 21):5095-106. doi: 10.1113/jphysiol.2009.178236. Epub 2009 Sep 1.

17.

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.

O'Neal J, Gao F, Hassan A, Monahan R, Barrios S, Kilimann MW, Lee I, Chng WJ, Vij R, Tomasson MH.

Exp Hematol. 2009 Feb;37(2):234-44. doi: 10.1016/j.exphem.2008.10.014. Erratum in: Exp Hematol. 2009 Apr;37(4):532. Kilimann, Manfred W [added].

18.

Paralemmin-1, a modulator of filopodia induction is required for spine maturation.

Arstikaitis P, Gauthier-Campbell C, Carolina Gutierrez Herrera R, Huang K, Levinson JN, Murphy TH, Kilimann MW, Sala C, Colicos MA, El-Husseini A.

Mol Biol Cell. 2008 May;19(5):2026-38. doi: 10.1091/mbc.E07-08-0802. Epub 2008 Feb 20.

19.

Cellular and subcellular localization of paralemmin-1, a protein involved in cell shape control, in the rat brain, adrenal gland and kidney.

Kutzleb C, Petrasch-Parwez E, Kilimann MW.

Histochem Cell Biol. 2007 Jan;127(1):13-30. Epub 2006 Jul 18.

PMID:
16847661
20.

Supplemental Content

Loading ...
Support Center