Sine SM - Search Results

1

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. Engel AG, et al. Among authors: sine sm. Hum Mol Genet. 1996 Sep;5(9):1217-27. doi: 10.1093/hmg/5.9.1217. Hum Mol Genet. 1996. PMID: 8872460

2

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Ohno K, et al. Among authors: sine sm. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62. doi: 10.1073/pnas.92.3.758. Proc Natl Acad Sci U S A. 1995. PMID: 7531341 Free PMC article.

3

Molecular dissection of subunit interfaces in the acetylcholine receptor: identification of determinants of alpha-conotoxin M1 selectivity.

Sine SM, Kreienkamp HJ, Bren N, Maeda R, Taylor P. Sine SM, et al. Neuron. 1995 Jul;15(1):205-11. doi: 10.1016/0896-6273(95)90077-2. Neuron. 1995. PMID: 7619523 Free article.

4

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Sine SM, et al. Neuron. 1995 Jul;15(1):229-39. doi: 10.1016/0896-6273(95)90080-2. Neuron. 1995. PMID: 7619526 Free article.

5

Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors.

Bouzat C, Bren N, Sine SM. Bouzat C, et al. Among authors: sine sm. Neuron. 1994 Dec;13(6):1395-402. doi: 10.1016/0896-6273(94)90424-3. Neuron. 1994. PMID: 7993630

6

Molecular dissection of subunit interfaces in the acetylcholine receptor: identification of residues that determine curare selectivity.

Sine SM. Sine SM. Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9436-40. doi: 10.1073/pnas.90.20.9436. Proc Natl Acad Sci U S A. 1993. PMID: 8415719 Free PMC article.

7

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Ohno K, et al. Among authors: sine sm. Neuron. 1996 Jul;17(1):157-70. doi: 10.1016/s0896-6273(00)80289-5. Neuron. 1996. PMID: 8755487 Free article.

8

Molecular dissection of subunit interfaces in the acetylcholine receptor. Identification of residues that determine agonist selectivity.

Prince RJ, Sine SM. Prince RJ, et al. Among authors: sine sm. J Biol Chem. 1996 Oct 18;271(42):25770-7. doi: 10.1074/jbc.271.42.25770. J Biol Chem. 1996. PMID: 8824205 Free article.

9

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.

Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. Engel AG, et al. Among authors: sine sm. Ann Neurol. 1996 Nov;40(5):810-7. doi: 10.1002/ana.410400521. Ann Neurol. 1996. PMID: 8957026

10

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Ohno K, et al. Among authors: sine sm. Hum Mol Genet. 1997 May;6(5):753-66. doi: 10.1093/hmg/6.5.753. Hum Mol Genet. 1997. PMID: 9158150

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