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

Journal of Neuroscience

Volumn 20, Issue 15, 2000, Pages 5696-5702

  Moulding, Hugh D ^a   Martuza, Robert L ^a,b   Rabkin, Samuel D ^a,b  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Gene transfer; Herpes simplex virus; Membrane glycoproteins; Mental retardation; Neurite outgrowth; Protein trafficking

Indexed keywords

GLYCOPROTEIN; NERVE CELL ADHESION MOLECULE; VIRUS VECTOR;

ANIMAL CELL; ARTICLE; ASTROCYTE; CEREBELLUM; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; GENE TRANSFER; GRANULE CELL; HERPES SIMPLEX VIRUS; HYDROCEPHALUS; MENTAL DEFICIENCY; MISSENSE MUTATION; MOUSE; NERVE FIBER GROWTH; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN TRANSPORT; VERO CELL;

EID: 0034255327     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.20-15-05696.2000     Document Type: Article

References (57)

1. Cargo can modulate COPII vesicle formation from the endoplasmic reticulum
2. The cell adhesion molecule L1 has a specific role in neural cell migration
3. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
4. Cloning and sequencing of human intestinal alkaline phosphatase cDNA
5. Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily
6. Neural cell recognition molecule L1: From cell biology to human hereditary brain malformations
7. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
8. Phosphorylation-dependent regulation of axon fasciculation
9. An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K
10. Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1
11. Characterization of a temperature-sensitive, DNA-positive, nontransforming mutant of simian virus 40
12. Preferential addition of newly synthesized membrane protein at axonal growth cones
13. Mutational analysis of the L1 neuronal cell adhesion molecule identifies membrane-proxomal amino acids of the cytoplasmic domain that are required for cytoskeletal anchorage
14. Disruption of the mouse L1 gene leads to malformations of the nervous system
15. Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules
16. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities
17. Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice
18. Protein glycosylation in development and disease
19. Biosynthesis and membrane topography of the neural cell adhesion molecule L1
20. A single immunoglobulin-like domain of the human neural cell adhesion molecule L1 supports adhesion by multiple vascular and platelet integrins
21. Neurite outgrowth patterns in cerebellar microexplant cultures are affected by antibodies to the cell surface glycoprotein L1
22. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit
23. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
24. L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
25. Genotype-phenotype correlation in L1 associated diseases
26. Tyrosine phosphorylation at a site highly conserved in the L1 family of cell adhesion molecules abolishes ankyrin binding and increases lateral mobility of neurofascin
27. Cell adhesion molecules in the early developing mouse retina: Retinal neurons show preferential outgrowth in vitro on L1 but not N-CAM
28. The neural adhesion molecule L1 is phosphorylated on tyrosine and serine residues
29. Structural requirements for outside-in and inside-out signaling by Drosophila neuroglian, a member of the L1 family of cell adhesion molecules
30. Impaired neurite outgrowth of src-minus cerebellar neurons on the cell adhesion molecule L1
31. The polarized sorting of membrane proteins expressed in cultured hippocampal neurons using viral vectors
32. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
33. Expression of a functional foreign gene in adult mammalian brain following in vivo transfer via herpes simplex virus type 1 defective vector
34. An L1-like molecule, the 8D9 antigen, is a potent substrate for neurite extension
35. L1-mediated axon outgrowth occurs via a homophilic binding mechanism
36. Preparation of 98% pure cerebellar granule cell cultures
37. Cis-activation of L1-mediated ankyrin recruitment by TAG-1 homophilic cell adhesion
38. Functional expression of a full-length cDNA coding for rat neural cell adhesion molecule L1 mediates homophilic intercellular adhesion and migration of cerebellar neurons
39. Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin
40. Co-expression of two gene products in the CNS using double-cassette defective herpes simplex virus vectors
41. Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex
42. Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
43. Axon/dendrite targeting of metabotropic glutamate receptors by their cytoplasmic carboxy-terminal domains
44. A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
45. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
46. Targeting of the synaptic vesicle protein synaptobrevin in the axon of cultured hippocampal neurons: Evidence for two distinct sorting steps
47. A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex
48. Casein kinase II phosphorylates the neural cell adhesion molecule L1
49. Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1
50. CRASH syndrome: Mutations in L1CAM correlate with severity of the disease
51. Expression of L1 in primary astrocytes via a defective herpes simplex virus vector promotes neurite outgrowth and neural cell migration
52. Identification of a defect in the intracellular trafficking of a kell blood group variant
53. The Arg-Gly-Asp motif in the cell adhesion molecule L1 promotes neurite outgrowth via interaction with the alphavbeta3 integrin
54. Structural requirements for association of neurofascin with ankyrin
55. Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1
56. Identification of a homophilic binding site in immunoglobulin-like domain 2 of the cell adhesion molecule L1
57. Tyrosine phosphorylation of L1 family adhesion molecules: Implication of the Eph kinase Cek5