Recommended Readings: Thomas Südhof, M.D. December 5

Friday Lecture Series
Friday, December 5, 2014
3:45 p.m., Caspary Auditorium

Thomas Südhof, M.D.
Avram Goldstein Professor,
Department of Molecular and Cellular Physiology,
Stanford School of Medicine
Howard Hughes Medical Institute

Cracking the Neurexin Code – Towards a Molecular Logic of Neural Circuits

Recommended Readings

Empirical Articles

Gokce, O., & Südhof, T. C. (2013). Membrane-tethered monomeric neurexin LNS-domain triggers synapse formation. The Journal of Neuroscience, 33(36), 14617–14628. doi:10.1523/JNEUROSCI.1232-13.2013

Rothwell, P. E., Fuccillo, M. V, Maxeiner, S., Hayton, S. J., Gokce, O., Lim, B. K., … Südhof, T. C. (2014). Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell, 158(1), 198–212. doi:10.1016/j.cell.2014.04.045

Treutlein, B., Gokce, O., Quake, S. R., & Südhof, T. C. (2014). Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing. Proceedings of the National Academy of Sciences, 111(13), E1291–E1299. doi:10.1073/pnas.1403244111

Tsetsenis, T., Boucard, a. a., Arac, D., Brunger, a. T., & Sudhof, T. C. (2014). Direct visualization of trans-synaptic neurexin-neuroligin interactions during synapse formation. Journal of Neuroscience, 34(45), 15083–15096. doi:10.1523/JNEUROSCI.0348-14.2014

Review Articles

Südhof, T. C. (2008). Neuroligins and neurexins link synaptic function to cognitive disease. Nature, 455(7215), 903–911. doi:10.1038/nature07456

Südhof, T. C. (2014). The molecular machinery of neurotransmitter release (Nobel Lecture). Angewandte Chemie, 53(47), 12696–12717. doi:10.1002/anie.201406359

Recommended Readings: Joseph Gleeson, M.D.

Friday Lecture Series

Developing Treatments for Pediatric Brain Diseases through Genomics

Joseph Gleeson, M.D., professor of neurosciences and pediatrics,

University of California, San Diego;

investigator, Howard Hughes Medical Institute

 January 11, 2012

3:45 p.m.-5:00 p.m. (Refreshments, 3:15 p.m., Abby Lounge)

Caspary Auditorium

Recommended Readings

Dixon-Salazar, T. J., J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, et al. 2012. “Exome Sequencing can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine 4 (138)

Novarino, G., N. Akizu, and J. G. Gleeson. 2011. “Modeling Human Disease in Humans: The Ciliopathies.” Cell 147 (1): 70-79

Novarino, G., P. El-Fishawy, H. Kayserili, N. A. Meguid, E. M. Scott, J. Schroth, J. L. Silhavy, et al. 2012. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science 338 (6105): 394-397

Parisi, M. A., C. L. Bennett, M. L. Eckert, W. B. Dobyns, J. G. Gleeson, D. W. W. Shaw, R. McDonald, A. Eddy, P. F. Chance, and I. A. Glass. 2004. “The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis is Present in a Subset of Individuals with Joubert Syndrome.” American Journal of Human Genetics 75 (1): 82-91

Yaari, R., I. A. Anselm, I. S. Szer, D. M. Malicki, M. P. Nespeca, and J. G. Gleeson. 2004. “Childhood Primary Angiitis of the Central Nervous System: Two Biopsy-Proven Cases.” Journal of Pediatrics 145 (5): 693-697



Recommended Readings: Damon Page Ph.D. November 2, 2009

Monday Lecture


Influence of Pten and the Serotonin Pathway on Autism-like Endophenotypes in Mice


Damon Page Ph.D.

Postdoctoral Fellow

Picower Institute for Learning and Memory, Massachusetts Institute of Technology

Nov. 2, 2009

4:00 p.m. (Refreshments, 3:45 p.m.)

Welch Hall, Level Two

Recommended Readings: 

Page DT, Kuti OJ, Prestia C, et al.  2009.   Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior  PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA   106 (6): 1989-1994

 Bourgeron T.  2009.    A synaptic trek to autism.  CURRENT OPINION IN NEUROBIOLOGY    19( 2): 231-234

 Anderson BM, Schnetz-Boutaud NC, Bartlett J, et al.   2009.   Examination of association of genes in the serotonin system to autism.   NEUROGENETICS   10(3): 209-216     Request a copy of this paper from Markus Library.

 Skuse D.  2006.  Genetic influences on the neural basis of social cognition. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES    361(1476): 2129-2141 

 Cheh MA, Millonig JH, Roselli LM, et al.   2006. En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder . BRAIN RESEARCH    1116:166-176   

 Olofsson, B; Page, DT.   2005.   Condensation of the central nervous system in embryonic Drosophila is inhibited by blocking hemocyte migration or neural activity
DEVELOPMENTAL BIOLOGY    279 (1 ) : 233-243

 Page, DT.  2002.  Inductive patterning of the embryonic brain in Drosophila . DEVELOPMENT    129 ( 9): 2121-2128   

Related Readings: Eric M. Morrow M.D.

Autosomal Recessive Mutations Identified in Autism in

Special Founder Populations

Monday, March 10, 2008

Welch Hall  Markus Library  Level Two  4 p.m. Refreshments at 3:45 p.m.

Recommended Review Article:

Morrow, Eric M. and Jordan W. Smoller. (2006). The interface of genetics and clinical psychiatry. Introduction.  Harvard Review of Psychiatry. 14(2): 45-56

Related Articles:

Morrow, Eric M. et al.  (2007).  Autosomal recessive loci in familial autisms using a systematic homozygosity mapping strategy.  Biological Psychiatry   61(8 supple. S):10s

Ma, D. Q. et al.  (2005).  Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. American Journal of Human Genetics 77(3):377-388

Kumadas,  S; Akcakus, M; Coskun, A; and H. Gumus.  (2004).  Joubert syndrome: review and report of seen new cases. European Journal of Neurology 11(8):505-510

Levine, John C; Morrow, Eric M; Berdichevsky, Yevgeny; and Gilles E. Martin. (2007). BKca channel in autism and mental retardation.  American Journal of Psychiatry. 164(6):978-979

Sikora, Darryn M. et al.  (2006)  The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.  American Journal of Medical Genetics A  140(14):1511-1518