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Results: 1 to 20 of 89

1.

L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.

Schäfer MK, Nam YC, Moumen A, Keglowich L, Bouché E, Küffner M, Bock HH, Rathjen FG, Raoul C, Frotscher M.

Neurobiol Dis. 2010 Oct;40(1):222-37. doi: 10.1016/j.nbd.2010.05.029. Epub 2010 May 31.

PMID:
20621658
[PubMed - indexed for MEDLINE]
2.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Marx M, Diestel S, Bozon M, Keglowich L, Drouot N, Bouché E, Frebourg T, Minz M, Saugier-Veber P, Castellani V, Schäfer MK.

Neurogenetics. 2012 Feb;13(1):49-59. doi: 10.1007/s10048-011-0307-4. Epub 2012 Jan 6.

PMID:
22222883
[PubMed - indexed for MEDLINE]
3.

Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation.

Itoh K, Fujisaki K, Watanabe M.

J Neurosci Res. 2011 Oct;89(10):1637-45. doi: 10.1002/jnr.22695. Epub 2011 Jun 17.

PMID:
21688291
[PubMed - indexed for MEDLINE]
4.

Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

Nagaraj K, Kristiansen LV, Skrzynski A, Castiella C, Garcia-Alonso L, Hortsch M.

Hum Mol Genet. 2009 Oct 15;18(20):3822-31. doi: 10.1093/hmg/ddp325. Epub 2009 Jul 19.

PMID:
19617634
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Ankyrin-dependent and -independent mechanisms orchestrate axonal compartmentalization of L1 family members neurofascin and L1/neuron-glia cell adhesion molecule.

Boiko T, Vakulenko M, Ewers H, Yap CC, Norden C, Winckler B.

J Neurosci. 2007 Jan 17;27(3):590-603.

PMID:
17234591
[PubMed - indexed for MEDLINE]
Free Article
6.

The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo.

Rünker AE, Bartsch U, Nave KA, Schachner M.

J Neurosci. 2003 Jan 1;23(1):277-86.

PMID:
12514225
[PubMed - indexed for MEDLINE]
Free Article
7.

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.

Michelson P, Hartwig C, Schachner M, Gal A, Veske A, Finckh U.

Hum Mutat. 2002 Dec;20(6):481-2.

PMID:
12442287
[PubMed - indexed for MEDLINE]
8.

Multiple molecular determinants in the carboxyl terminus regulate dopamine transporter export from endoplasmic reticulum.

Miranda M, Sorkina T, Grammatopoulos TN, Zawada WM, Sorkin A.

J Biol Chem. 2004 Jul 16;279(29):30760-70. Epub 2004 May 5.

PMID:
15128747
[PubMed - indexed for MEDLINE]
Free Article
9.

Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate.

Cheng L, Lemmon V.

Mol Cell Neurosci. 2004 Dec;27(4):522-30.

PMID:
15555929
[PubMed - indexed for MEDLINE]
10.

Effects of chronic stress on contextual fear conditioning and the hippocampal expression of the neural cell adhesion molecule, its polysialylation, and L1.

Sandi C, Merino JJ, Cordero MI, Touyarot K, Venero C.

Neuroscience. 2001;102(2):329-39.

PMID:
11166119
[PubMed - indexed for MEDLINE]
11.

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.

Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M.

J Neurosurg. 2006 Nov;105(5 Suppl):403-12.

PMID:
17328266
[PubMed - indexed for MEDLINE]
12.

Cell surface expression of GluR5 kainate receptors is regulated by an endoplasmic reticulum retention signal.

Ren Z, Riley NJ, Needleman LA, Sanders JM, Swanson GT, Marshall J.

J Biol Chem. 2003 Dec 26;278(52):52700-9. Epub 2003 Oct 3.

PMID:
14527949
[PubMed - indexed for MEDLINE]
Free Article
13.

Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.

Needham LK, Thelen K, Maness PF.

J Neurosci. 2001 Mar 1;21(5):1490-500.

PMID:
11222639
[PubMed - indexed for MEDLINE]
Free Article
14.

CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth.

Nishimura T, Fukata Y, Kato K, Yamaguchi T, Matsuura Y, Kamiguchi H, Kaibuchi K.

Nat Cell Biol. 2003 Sep;5(9):819-26. Epub 2003 Aug 24.

PMID:
12942088
[PubMed - indexed for MEDLINE]
15.

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A.

J Neurosci Res. 2004 Jun 15;76(6):862-71.

PMID:
15160397
[PubMed - indexed for MEDLINE]
16.

Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.

Moulding HD, Martuza RL, Rabkin SD.

J Neurosci. 2000 Aug 1;20(15):5696-702.

PMID:
10908608
[PubMed - indexed for MEDLINE]
Free Article
17.

Chronic stress induces opposite changes in the mRNA expression of the cell adhesion molecules NCAM and L1.

Venero C, Tilling T, Hermans-Borgmeyer I, Schmidt R, Schachner M, Sandi C.

Neuroscience. 2002;115(4):1211-9.

PMID:
12453492
[PubMed - indexed for MEDLINE]
18.

L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.

Tagliavacca L, Colombo F, Racchetti G, Meldolesi J.

J Neurochem. 2013 Feb;124(3):397-409. doi: 10.1111/jnc.12015. Epub 2012 Dec 10.

PMID:
22973895
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Neurons overexpressing mutant presenilin-1 are more sensitive to apoptosis induced by endoplasmic reticulum-Golgi stress.

Terro F, Czech C, Esclaire F, Elyaman W, Yardin C, Baclet MC, Touchet N, Tremp G, Pradier L, Hugon J.

J Neurosci Res. 2002 Aug 15;69(4):530-9.

PMID:
12210846
[PubMed - indexed for MEDLINE]
20.

Neuronal Galectin-4 is required for axon growth and for the organization of axonal membrane L1 delivery and clustering.

Velasco S, Díez-Revuelta N, Hernández-Iglesias T, Kaltner H, André S, Gabius HJ, Abad-Rodríguez J.

J Neurochem. 2013 Apr;125(1):49-62. doi: 10.1111/jnc.12148. Epub 2013 Feb 3.

PMID:
23311731
[PubMed - indexed for MEDLINE]

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