PMC Links for Nucleotide (Select 1677530382) - PMC

Select item 54138661.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stephanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, SYNAPS Study Group, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

Ann Neurol. 2017 Apr; 81(4): 597–603. Published online 2017 Mar 29. doi: 10.1002/ana.24905

PMCID:: PMC5413866

Abstract Article PDF–413K

Select item 44261632.

Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer’s pathophysiology and susceptibility

Daniel Sevlever, Fanggeng Zou, Li Ma, Sebastian Carrasquillo, Michael G Crump, Oliver J Culley, Talisha A Hunter, Gina D Bisceglio, Linda Younkin, Mariet Allen, Minerva M Carrasquillo, Sigrid B Sando, Jan O Aasly, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Kevin Morgan for ARUK consortium, Olivia Belbin

Mol Neurodegener. 2015; 10: 18. Published online 2015 Apr 9. doi: 10.1186/s13024-015-0015-x

Correction in:: Mol Neurodegener. 2015; 10: 49.

PMCID:: PMC4426163

Abstract Article PDF–841K

Select item 40921453.

Widespread Sequence Variations in VAMP1 across Vertebrates Suggest a Potential Selective Pressure from Botulinum Neurotoxins

Lisheng Peng, Michael Adler, Ann Demogines, Andrew Borrell, Huisheng Liu, Liang Tao, William H. Tepp, Su-Chun Zhang, Eric A. Johnson, Sara L. Sawyer, Min Dong

PLoS Pathog. 2014 Jul; 10(7): e1004177. Published online 2014 Jul 10. doi: 10.1371/journal.ppat.1004177

PMCID:: PMC4092145

Abstract Article PDF–1.3M

Select item 35119834.

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark G. Stefanelli, Kathleen Hodgkinson, Elizabeth J. Ives, William Pryse-Phillips, Mandar Jog, Kym Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau

Am J Hum Genet. 2012 Sep 7; 91(3): 548–552. doi: 10.1016/j.ajhg.2012.07.018

PMCID:: PMC3511983

Abstract Article PDF–875K

Select item 12175775.

Insulin-responsive tissues contain the core complex protein SNAP-25 (synaptosomal-associated protein 25) A and B isoforms in addition to syntaxin 4 and synaptobrevins 1 and 2.

M N Jagadish, C S Fernandez, D R Hewish, S L Macaulay, K H Gough, J Grusovin, A Verkuylen, L Cosgrove, A Alafaci, M J Frenkel, C W Ward

Biochem J. 1996 Aug 1; 317(Pt 3): 945–954. doi: 10.1042/bj3170945

PMCID:: PMC1217577

Summary PDF–607K

Select item 33760256.

Decreased Lin7b Expression in Layer 5 Pyramidal Neurons May Contribute to Impaired Corticostriatal Connectivity in Huntington Disease

Birgit Zucker, Jibrin A. Kama, Alexandre Kuhn, Doris Thu, Lianna R. Orlando, Anthone W. Dunah, Ozgun Gokce, David M. Taylor, Johann Lambeck, Bernd Friedrich, Katrin S. Lindenberg, Richard L.M. Faull, Cornelius Weiller, Anne B. Young, Ruth Luthi-Carter

J Neuropathol Exp Neurol. Author manuscript; available in PMC 2012 Jun 15.

Published in final edited form as: J Neuropathol Exp Neurol. 2010 Sep; 69(9): 880–895. doi: 10.1097/NEN.0b013e3181ed7a41

PMCID:: PMC3376025

Abstract Article PDF–5.4M

Select item 24310307.

Transcription of Genes Encoding Synaptic Vesicle Proteins in Human Neural Stem Cells: CHROMATIN ACCESSIBILITY, HISTONE METHYLATION PATTERN, AND THE ESSENTIAL ROLE OF REST

Myriam Ekici, Mathias Hohl, Frans Schuit, Alberto Martínez-Serrano, Gerald Thiel

J Biol Chem. 2008 Apr 4; 283(14): 9257–9268. doi: 10.1074/jbc.M709388200

PMCID:: PMC2431030

Abstract Article PDF–535K

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