Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2 |
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| Authors: | Vachiranee Limviphuvadh Ling Ling Chua Rabi 'Atul' Adawiyah Bte Rahim Frank Eisenhaber Sebastian Maurer-Stroh Sharmila Adhikari |
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| Institution: | (1) Bioinformatics Institute, (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street, #07-01 Matrix, 138671, Singapore;(2) Department of Biological Sciences, National University of Singapore (NUS), 14 Science Drive 4, 117543, Singapore;(3) School of Computer Engineering (SCE), Nanyang Technological University (NTU), 50 Nanyang Drive, 637553, Singapore;(4) School of Biological Sciences (SBS), Nanyang Technological University (NTU), 60 Nanyang Drive, 637551, Singapore |
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| Abstract: | Background The LGI2 (leucine-rich, glioma inactivated 2) gene, a prime candidate for partial epilepsy with pericentral spikes, belongs
to a family encoding secreted, beta-propeller domain proteins with EPTP/EAR epilepsy-associated repeats. In another family
member, LGI1 (leucine-rich, glioma inactivated 1) mutations are responsible for autosomal dominant lateral temporal epilepsy
(ADLTE). Because a few LGI1 disease mutations described in the literature cause secretion failure, we experimentally analyzed
the secretion efficiency and subcellular localization of several LGI1 and LGI2 mutant proteins corresponding to observed non-synonymous
single nucleotide polymorphisms (nsSNPs) affecting the signal peptide, the leucine-rich repeats and the EAR propeller. |
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