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Items: 1 to 50 of 93

1.

Neocortical Expansion Due to Increased Proliferation of Basal Progenitors Is Linked to Changes in Their Morphology.

Kalebic N, Gilardi C, Stepien B, Wilsch-Bräuninger M, Long KR, Namba T, Florio M, Langen B, Lombardot B, Shevchenko A, Kilimann MW, Kawasaki H, Wimberger P, Huttner WB.

Cell Stem Cell. 2019 Apr 4;24(4):535-550.e9. doi: 10.1016/j.stem.2019.02.017. Epub 2019 Mar 21.

PMID:
30905618
2.

Molecular Dissection of Neurobeachin Function at Excitatory Synapses.

Repetto D, Brockhaus J, Rhee HJ, Lee C, Kilimann MW, Rhee J, Northoff LM, Guo W, Reissner C, Missler M.

Front Synaptic Neurosci. 2018 Aug 15;10:28. doi: 10.3389/fnsyn.2018.00028. eCollection 2018.

3.

Neurobeachin and the Kinesin KIF21B Are Critical for Endocytic Recycling of NMDA Receptors and Regulate Social Behavior.

Gromova KV, Muhia M, Rothammer N, Gee CE, Thies E, Schaefer I, Kress S, Kilimann MW, Shevchuk O, Oertner TG, Kneussel M.

Cell Rep. 2018 May 29;23(9):2705-2717. doi: 10.1016/j.celrep.2018.04.112.

4.

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.

5.

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.

6.

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.

7.

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
8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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
16.

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.

17.

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
18.

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.

19.

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.

20.

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].

21.

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.

22.

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
23.
24.

Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes.

de Luca C, Kowalski TJ, Zhang Y, Elmquist JK, Lee C, Kilimann MW, Ludwig T, Liu SM, Chua SC Jr.

J Clin Invest. 2005 Dec;115(12):3484-93. Epub 2005 Nov 10.

25.

Amphiphysin autoimmunity: paraneoplastic accompaniments.

Pittock SJ, Lucchinetti CF, Parisi JE, Benarroch EE, Mokri B, Stephan CL, Kim KK, Kilimann MW, Lennon VA.

Ann Neurol. 2005 Jul;58(1):96-107.

PMID:
15984030
26.

Palm is expressed in both developing and adult mouse lens and retina.

Castellini M, Wolf LV, Chauhan BK, Galileo DS, Kilimann MW, Cvekl A, Duncan MK.

BMC Ophthalmol. 2005 Jun 21;5:14.

27.

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.

Am J Hum Genet. 2005 Jun;76(6):1034-49. Epub 2005 May 2.

28.

Rat synapsin 1 promoter mediated transgene expression in testicular cell types.

Street KA, Xu G, Hall KL, Intano GW, McCarrey JR, Herbert DC, Kilimann MW, Walter CA.

DNA Cell Biol. 2005 Feb;24(2):133-40.

PMID:
15699633
29.

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.

Pediatr Res. 2003 Dec;54(6):834-9. Epub 2003 Aug 20.

PMID:
12930917
30.

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.

Eur J Hum Genet. 2003 Jul;11(7):516-26.

31.

Amphiphysin1 inhibits vitronectin-mediated cell adhesion, spreading, and migration in vitro.

Otsuka A, Hirose K, Kilimann MW, Kamata T.

Biochem Biophys Res Commun. 2003 Feb 14;301(3):769-75.

PMID:
12565847
32.

Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays.

Chauhan BK, Reed NA, Zhang W, Duncan MK, Kilimann MW, Cvekl A.

J Biol Chem. 2002 Mar 29;277(13):11539-48. Epub 2002 Jan 14.

33.

The paralemmin protein family: identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distant cytosolic relative.

Hu B, Copeland NG, Gilbert DJ, Jenkins NA, Kilimann MW.

Biochem Biophys Res Commun. 2001 Aug 3;285(5):1369-76.

PMID:
11478809
34.

Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha -helix motifs.

Wang X, Hu B, Zimmermann B, Kilimann MW.

J Biol Chem. 2001 Aug 31;276(35):32480-8. Epub 2001 Jun 28.

35.

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.

Hum Genet. 1999 Sep;105(3):240-3.

PMID:
10987651
36.
37.

Inhibition of phospholipase D by amphiphysins.

Lee C, Kim SR, Chung JK, Frohman MA, Kilimann MW, Rhee SG.

J Biol Chem. 2000 Jun 23;275(25):18751-8.

38.

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.

Ann Neurol. 2000 Apr;47(4):536-40.

PMID:
10762170
39.

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW.

Neurogenetics. 1998 Mar;1(3):205-11.

PMID:
10737124
40.

Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic.

Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW.

J Neurosci. 2000 Dec 1;20(23):8551-65.

41.

Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin.

Wang X, Kibschull M, Laue MM, Lichte B, Petrasch-Parwez E, Kilimann MW.

J Cell Biol. 1999 Oct 4;147(1):151-62.

42.

The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13.

Gilbert DJ, Engel H, Wang X, Grzeschik KH, Copeland NG, Jenkins NA, Kilimann MW.

Mamm Genome. 1999 Oct;10(10):1030-1. No abstract available.

PMID:
10501977
43.

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW.

Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7.

PMID:
10425211
44.

Paralemmin, a prenyl-palmitoyl-anchored phosphoprotein abundant in neurons and implicated in plasma membrane dynamics and cell process formation.

Kutzleb C, Sanders G, Yamamoto R, Wang X, Lichte B, Petrasch-Parwez E, Kilimann MW.

J Cell Biol. 1998 Nov 2;143(3):795-813.

45.

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW.

Am J Hum Genet. 1998 Apr;62(4):785-91.

46.

Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice.

Burwinkel B, Miglierini G, Jenne DE, Gilbert DJ, Copeland NG, Jenkins NA, Ring HZ, Francke U, Kilimann MW.

Genomics. 1998 May 1;49(3):462-6.

PMID:
9615234
47.

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW.

Hum Genet. 1998 Apr;102(4):423-9.

PMID:
9600238
48.
49.

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW.

Ann Neurol. 1998 Mar;43(3):326-31.

PMID:
9506549
50.

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.

Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.

Hum Mol Genet. 1998 Jan;7(1):149-54.

PMID:
9384616

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