Citations for
1CNTNAP1, GLDN, LCCS11, LCCS7, NFASC, NRCAM
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.
Am J Hum Genet 99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. 2016
2CNTNAP1
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S.
J Neuropathol Exp Neurol Neuropathol Exp Neurol. 2016 Nov 6. pii: nlw093. [Epub ahead of print] 2016
3CNTNAP1, LCCS7
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, Isidor B.
Eur J Hum Genet ur J Hum Genet. 2016 Oct 26. doi: 10.1038/ejhg.2016.142. [Epub ahead of print] 2016
4CHN1, CNTNAP1
Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy.
Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB.
Muscle Nerve uscle Nerve. 2016 Sep 26. doi: 10.1002/mus.25416. [Epub ahead of print] 2016
5CNTNAP1
Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy.
Doppler K, Appeltshauser L, Villmann C, Martin C, Peles E, Krämer HH, Haarmann A, Buttmann M, Sommer C.
Brain 139(Pt 10):2617-2630. 2016
6ADCY6, CNTNAP1, LCCS7, LCCS8
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.
Hum Mol Genet 23(9):2279-89. doi: 10.1093/hmg/ddt618. 2014
7CNTNAP1, CNTNAP2
Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.
Gordon A, Adamsky K, Vainshtein A, Frechter S, Dupree JL, Rosenbluth J, Peles E.
J Neurosci 34(45):14820-6. doi: 10.1523/JNEUROSCI.3369-14.2014. 2014
8CNTNAP1
Caspr interaction with Amyloid Precursor Protein reduces amyloid-β generation in vitro.
Fan LF, Xu DE, Wang WH, Yan K, Wu H, Yao XQ, Xu RX, Liu CF, Ma QH.
Neurosci Lett 548:255-60. doi: 10.1016/j.neulet.2013.05.055. 2013
9CNTNAP1
Contactin-associated protein 1 (Caspr1) regulates the traffic and synaptic content of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors.
Santos SD, Iuliano O, Ribeiro L, Veran J, Ferreira JS, Rio P, Mulle C, Duarte CB, Carvalho AL.
J Biol Chem 287(9):6868-77. doi: 10.1074/jbc.M111.322909. 2012
10CNTNAP1
Localization of the paranodal protein Caspr in the mammalian retina.
O'Brien BJ, Hirano AA, Buttermore ED, Bhat MA, Peles E.
Mol Vis 16:1854-63. 2010
11CNTNAP1
A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nerves.
Sun XY, Takagishi Y, Okabe E, Chishima Y, Kanou Y, Murase S, Mizumura K, Inaba M, Komatsu Y, Hayashi Y, Peles E, Oda S, Murata Y.
J Neuropathol Exp Neurol 68(11):1207-18.PMID: 19816196 2009
12CNTNAP1, NFASC
Disposition of axonal caspr with respect to glial cell membranes: Implications for the process of myelination.
Pedraza L, Huang JK, Colman D.
J Neurosci Res 87(15):3480-91.PMID: 19170162 2009
13CNTNAP1, NFASC
No effect of genetic deletion of contactin-associated protein (CASPR) on axonal orientation and synaptic plasticity.
Pillai AM, Garcia-Fresco GP, Sousa AD, Dupree JL, Philpot BD, Bhat MA.
J Neurosci Res 85(11):2318-31.PMID: 17549747 2007
14CNTNAP1, CNTNAP2, EPB41, EPB41L3
Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres.
Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA.
Eur J Neurosci 17(2):411-6. 2003
15CNTNAP1, KCNAB1, RTN4
Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization.
Nie DY, Zhou ZH, Ang BT, Teng FY, Xu G, Xiang T, Wang CY, Zeng L, Takeda Y, Xu TL, Ng YK, Faivre-Sarrailh C, Popko B, Ling EA, Schachner M, Watanabe K, Pallen CJ, Tang BL, Xiao ZC.
EMBO J 22(21):5666-78. 2003
16CNTN1, CNTNAP1
Caspr regulates the processing of contactin and inhibits its binding to neurofascin.
Gollan L, Salomon D, Salzer JL, Peles E.
J Cell Biol 163(6):1213-8. Epub 2003 Dec 15. 2003
17CNTN1, CNTN2, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP1
Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination.
Rios JC, Melendez-Vasquez CV, Einheber S, Lustig M, Grumet M, Hemperly J, Peles E, Salzer JL.
J Neurosci 20(22):8354-64.PMID: 11069942 2000
18NRXN1, NRXN2, NRXN3, CNTNAP1
Neurexins : three genes and 1001 products.
Missler M, Sudhof TC.
Trends Genet 14(1):20-6. 1998
19CNTNAP1
Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.
Peles E, Nativ M, Lustig M, Grumet M, Schilling J, Martinez R, Plowman GD, Schlessinger J.
EMBO J 16 : 978-988. 1997
20CNTNAP1
Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.
Peles E, Nativ M, Lustig M, Grumet M, Schilling J, Martinez R, Plowman GD, Schlessinger J.
EMBO J 16(5):978-88.PMID: 9118959 1997