NICHD BRAIN AND TISSUE BANK
Publications Utilizing Tissue Donations
AREA OF RESEARCH
Autism
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism. Hogart, A., Nagarajan, R., Patzel, K., Yasue, D. and LaSalle, J. IMFAR, Seattle, WA 2007. [abstract]
A Mixed Epigenetic/Genetic Model for Oligogenic Inheritance of Autism with a Limited Role for UBE3A. Jiang, Y., Sahoo, T., Michaelis, R., Bercovich, D., Bressler, J., Kashork, C., Liu, Q., Shaffer, L., Schroer, R., Stockton, D., Spielman, R., Stevenson, R. and Beaudet, A. American Journal of Medical Genetics 131A: 1-10, 2004. [paper]
A Neuroanatomical Study of the Brainstem Nuclei in Autism. Thevarkunnel, S., Martchek, M., Kemper, T., Bauman, M., Blatt, G. Presented at SFN 2004. [abstract]
A Neuropathogical Investigation of the Brainstem in Autism. Thevarkunnel, S., Martchek, M., Blatt, G., Kempter, T and Bauman, M. Presented at IMFAR, 2004. [abstract]
A desmin-related protein as a biomarker for autism. Junaid, M.A., Pullarkat, P.S. and Pullarkat, R.K. IMFAR, November 1-2, 2002. [abstract]
A microscipical study on the neuroanatomical abnormalities of language-related cortical areas in autistic patients. Lupez-Hurtada, E., DeFelipe, J. and Prieto, J.J. IMFAR,November 1-2, 2002. [abstract]
A neuropathological investigation of the locus coeruleus in autism. Martchek, M., Thevarkunnel, S., Bauman, M.L., Blatt, G.J. and Kemper, T.L. Thesis - Boston University 2004 [abstract]
A proteomic approach for gene hunting in autism: alpha b-cystallin. M.A. Junaid, P.S. Pullarkat and R.K. Pullarkat IMFAR, November 9-10, 2001. [abstract]
Abnormal Striatal circuits in Autism - Links Between Structure and Function. Wegiel, J., Nowicki, Kuchna, I., Wegiel, J., Wierzba, Bobrowicz, T., Rabe, A., Choen, I. and Brown, T. IMFAR, 2007. [abstract]
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Herzing, L., Cook, E. and Ledbetter, D. Human Molecular Genetics, 11(15): 1707-1718, 2002. [paper]
Altered Levels of Bc12 and p53 Proteins in Parietal Cortex Reflect Deranged Apoptotic Regulation in Autism. Fatemi, S.H. and Halt, A. Synapse 43: 281-284, 2001. [paper]
Altered levels of BCL2 and P53 proteins in parietal cortex, reflect deranged apoptotic regulation in autism. S.H. Fatemi and A.R. Halt IMFAR, November 9-10, 2001. [abstract]
Altered protein expression in autistic cerebellum. E. M. Sajdel-Sulkowska IMFAR, November 9-10, 2001. [abstract]
Antibodies against fetal brain in sera of mothers with autistic children. Singer, H., Morris, C., Gause, C., Gillin, P., Crawford, S. and Zimmerman, A. J Neuroimmunol 194: 165-172, 2008. [paper]
Antibrain antibodies in children with autism and their unaffected siblings. Singer, H., Morris, C., Williams, P., Yoon, D., Hong, J. and Zimmerman, A. J of Neuroimmuology 178: 149-155, 2006. [paper]
Are there abnormal numbers of spindle neurons in autism? A quantitative sterological investigation. Kennedy, D., Semendeferi, K. and Courchesne, E. Neuroscience, 2005. [abstract]
Assessing central serotonin in rostral limbic areas of postmortem brain tissue from individuals with autism. G.M. Anderson and Y.G. Ni. IMFAR, November 9-10, 2001. [abstract]
Assessment of neural cell adhesion molecule (NCAM) in autistic serum and postmortem brain. Amy E. Purcell, Mary Margaret Rocco, Jennifer A. Lenhart, Karim Hyder, Andrew W. Zimmerman, and Jonathan Pevsner Journal of Autism and Developmental Disorder 31, No 2:183-194, 2001. [paper]
Autoantibodies in children with autism. Morris, C., Williams, P., Hong, J., Zimmerman, A. and Singer, H. Ann Neurol 58: 2005. [abstract]
Cerebellar involvement in autism: changes in protein and mRNA expression. Sajdel-Sulkowska, E.M. SFN, 2002. [abstract]
Cholinergic activity in autism: abnormalities in the cerebral cortex and basal forebrain. Perry, E.K., Lee, M.L.W., Martin-Ruiz, C.M., Court, J.A., Volsen, S.G., Merrit, J., Folly, E., Iversen, P.E., Bauman, M.L., Perry, R.H., Wenk, G.L. Am. J. Psychiatry 158:1058-1066, 2001. [paper]
Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications. Yip, J., Soghomonian, J. and Blatt, G. Acta Neuropathol DOI10.1007/s00401-006-0176-3. [paper]
Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study. Blatt, G.J., Fitzgeral, C.M., Guptill, J.T., Booker, A.N., Kemper, T.L. and Bauman, M.L. J. Autism Develop. Disorders 31:537-543, 2001. [paper]
Detection of leading developmental defects in brains of autistic subjects. Wegiel, J., London, E., Choen, I., Flory, M., Wisniewski, T., Imaki, H., Kuchna, I., Wegiel, J., Ma, S., Nowicki, K., Wang, K. and Brown, T. IMFAR 2008. [abstract]
Developmental minicolumn abnormalities in Brodmann's areas 9 and 46 in the dorsolateral prefrontal cortex in autism. Morgan, J., Buxhoeveden, D., Semendeferi, K., Switzer, R. and Courchesne, E. Presented [abstract]
Disruption of Cerebral Cortex MET Signaling in Autism Spectrum Disorder. Campbell, D., D'Oronzio, R., Garbett, K., Ebert, P., Mirnics, K., Levitt, P and Persico, A. Ann Neurol 62:243-250, 2007. [paper]
Dysregulation of reelin and Bcl-2 proteins in autistic cerebellum. Fameti, S.H.., Stary, J.M., Halt, A.R. and Realmuto, G.R. J. Autism Devel. Disorders 31: 529-535, 2001. [paper]
Epigenetic overlap in Autism-Spectrum Neurodevelopmental Disorders: MECP2 Deficiency Causes Reduced Expression of UBE3A and GABRB3. LaSalle, J. and Samaco, R. IMFAR 2005. [abstract]
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3QA and GABRB3. Samaco, R., Hogart, A. and LaSalle, J. Human Molecular Genectics 14: 483-492, 2005. [paper]
Expression of phosphodiesterase 4 is altered in the brains of subjects with autism. Braun, N., Reutiman, R., Lee, S., Folsom, T. and Fatemi, S.H. NeuroReport, 2007. [paper]
From blood hyperserotonemia to the developing cerebral cortex: Serotonin receptors in autism. Janusonis, S., Maichrowicz, R.M. and Slaten, E.R. SFN 2007, 61.10/W2 [abstract]
Functional Consequence of Comon Glyoxalase I SNP in Autism. Junaid, M., Madhabi, B. Kowal, D. and Pullarkat, P. IMFAR, 2005. [abstract]
GABRB3 Expression defects in autism cerebral samples. Hogart, A., Samaco, R. and LaSalle, J. IMFAR 2005. [abstract]
Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects. Laurence, J.A. and Fatemi, S.H. The Cerebellum 4: 206-210, 2005. [paper]
Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices. Fatemi, S.H., Halt, A.R., Stary, J.M., Kanodia, R., Schulz, S.C. and Realmuto, G.R. Biol. Psychiatry. 52:805-810, 2002. [paper]
Glyoxalase I SNP Modulate gene expression in Autism. Junaid, M., and Kuizon, S. and Pullarkat, P. IMFAR, 2006 [abstract]
Glyoxalase I as an autism susceptibility gene. Juanid, M., Kowal, D., Barua, M., Pullarkat, P. and Pulllarkat, R. IMFAR, 2004. [abstract]
Immune transcript disturbances in temporal cortex of autistic brains. Garbett, K.A., Ebert, P., Lintas, C., Mirnics, A.M. and Persico, A.M. SFN 2007: 61.15/W7 [abstract]
Immunity, neuroglia and neuroinflammation in autism. Pardo, C., Vargas, D. and Zimmerman, A. International Review of Psychiatry, 17: 485-495, 2005. [paper]
Increases Iba-1 positive microglial cell density in the autistic brain. Morgan, J.T., Chana, G., Buckwalter, J., Courchesne, E., Everall, I.P SBP, 2008. [abstract]
Intuition and autism: a possible role for Von Economo neurons. Allman, J., Watson, K., Tetreault, N. and Hakeem, A. Trends in Cognitive Science, 9: 367-373, 2005. [paper]
Is Autism a Disease of Oxidative Stress? Perry, G., Nunomura, A., Harris, P., Siedlak, S., Smith, M. and Salomon, R. Oxidative Stress in Autism Symposium, 15, 2005. [abstract]
Lack of evidence of neuropathology in the locus coeruleus in autism. Martchek, M., Thevarkunnel, S., Bauman, M., Blatt, G. and Kemper, T. Acta Neuropathol DOI10.1007/s00401-006-0061-0. [paper]
Levels of Bcl-2 and P53 are altered in superior frontal and cerebellar cortices of autistic subjects. Araghi-Niknam, M. and Fatemi, S.H. Cellular and Molecular Neurobiology 23: 945-952, 2003. [paper]
Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT). Pericak-Vance, M., Wolpert, C., Menold, M., Bass, M., DeLong, G., Beaty, L, Zimmerman, A., Potter, N., Gilbert, J., Vance, J., Wright, H., Abramson, R. and Cuccaro, M. Am. Soc. Hum. Genetics, Baltimore, MD 1997. [abstract]
MECP2 Expression Defects in the Cerebral Cortex of Autism Patients may be a result of both transcriptional and posttranscriptional mechanisms. Nagarajan, R., Samaco, R., Braunschweig, D. and LaSalle, J. IMFAR 2004. [abstract]
MEPC2 expression in postnatal brain is affected by cell extrinsic factors. LaSalle, J., Braunschweig, D., Simcox, T. and Samaco, R. IMFAR 2004. [abstract]
Magnetic Resonance Imaging of the Post-Mortem Autistic Brain. Schumann, C., Buonocore, M. and Amaral, D. Journal of Autism and Developmental Disorders, 31: 561-568, 2001. [paper]
Markers of oxidative stress in autistic brain. Sajdel-Sulkowska, E.M. and Lipinski, B. SFN 2007: 594.4/W20 [abstract]
Maternal antibrain antibodies in autism. Zimmerman, A., Connors, S., Matteson, K., Lee, L., Singer, H., Castaneda, J., Pearce, D. Brain, Behavior and Immunity 21: 351-357, 2006. [paper]
Microarray analyses of lymphoid cells for autism susceptibility genes. Pullarkat, R., Kowal, D., Pullarkat, P. and Junaid, M. IMFAR, 2004. [abstract]
Microglial activation in a 3-year old autistic brain. Morgan, J.T., Chana, G., Buckwalter, J., Courchesne, E., Everall, I.P SFN 2007: 172.12/GG1 [abstract]
Minicolumnar abnormalities in autism. Casanova, M., Kooten, I., Switala, A., Engeland, H., Heinsen, H., Steinbusch, H., Hof, P., Trippe, J., Stone, J. and Schmitz, C. Acta Neuropathol 112:287-303, 2006. / DOI 10.1007/s00401-006-0085-5 [paper]
Molecular characteristics of the autistic brain using high density-microarray techniques. Spielman, L., Yemul, S. Mukherjee, P., Pasinetti, G.M. and Ho, L. Neuroscience Meeting, New Orleans, 2000. [abstract]
Molecular characterizaiton of autistic brain samples with meternal 15q11-13 duplications. Hogart, A., Thatcher, K., Nagarajan, R., Schanen, C and LaSalle, J. Keystone 2008 presented. [abstract]
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Samaco, R., Nagarajan, R., Braunschweig, D. and LaSalle, J. Human Molecular Genetics 13: 629-639, 2004. [paper]
NKCC1 and KCC2 cation-chloride co-transporter expression in human brain: transitional changes during fetal development. Metitiri, O., Hyde, T., Lipska, B., Mitkus, S., Mathew, S., Herman, M. and Kleinman, J. SFN 2007: 805.9/V2 [abstract]
NRCAM: A Major Susceptibility Gene for Autism. Pullarkat, R., Kowal, D., PUllarkat, P., Chious, B and Junaid, M. IMFAR, 2005. [abstract]
Neuroglial Activation and Neuroinflammation in the Brain of Patients with Autism. Vargas, D., Mascimbene, C., Krishnan, C., Zimmerman, A. and Pardo, C. Ann Neurol 57: 67-81, 2005. [paper]
Neuroglial Activation in Autism: A Potential Neuroinflammatory Pathogenic Mechanism Vargas, D., Zimmerman, A. and Pardo, C. Ann Neurol 54:S147, 2005. [abstract]
Neuroinflammation and Behavioral Abnormalitites after Neonatal Terbutaline Treatment in Rats: Implications for Autism. Zerrate, M., Pletnikov, M., Connors, S., Vargas, D., Seidler, F., Zimmerman, A., Slotkin, T. and Pardo, C. J of Pharm and Exper Ther 322: 16-22, 2007. [paper]
Neuroinflammation in the developing autisitic brain: a case study. Morgan, J., Vargas, D., Buckwalter, J., Semendeferi, K., Pardo, C. and Courchesne, E. Presented [abstract]
Neuronal Growth Factors in Autism: Nerve Growth Factor and Brain-Derived Neurotrophic Factor Expression in the Cerebellum. Lopez, R., Bhattacharjee, M. and Lee, D. Society for Neuroscience, November 2001. [abstract]
Neurons in the fusiform gyrus are fewer and smaller in autism. Kooten, I., Palmen, S., Cappeln, P., Steinbusch, H., Korr, H., Heinsen, H., Hof, P., Engeland H. and Schmitz, C. Brain 131:987-999, 2008. doi: 10.1093/brain/awn033 [paper]
Neuropathology and alterations in the GABAergic system in autism. Blatt,G.J. J. Devel. Learn. Disord. 7: 57-64, 2003. [paper]
Neuropathology in autistic spectrum disorders: report of 7 cases. K.M. Weidenheim, A. Escobar, C. Gillberg, L. Goodman, D. Dickson, I. Rapin. IMFAR, November 9-10, 2001. [abstract]
Neuropathology in brain of people with chromosome 15 duplication and autism. Brown, T., Wisniewski, T., Cohen, I., London, E., Flory, M., Imaki, H., Kuchna, I., Wegiel, J., Ma., S., Nowicki, K., Wang, K. and Wegiel, J. IMFAR 2007 [abstract]
No reduction of spindle neuron number in frontoinsular cortex in autism. Kennedy, D., Semendeferi, K. and Courchesne, E. Brain & Cognition, 64:124-129, 2007. [paper]
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. Talebizadeh, Z., Lam, D., Theodoro, M., Bittel, D., Lushington, G. and Butler, M. Journal Medical Genetics, 2006; 43e21. doi: 10.1136/jmg.2005.036897. [paper]
Nucleus of Facial Nerve and Nucleus Olivaris Inferior in Autistic and Control Brain. Wegiel, J., Rabe, A., Cohen, R., Brown, T. and Wegiel, J. IMFAR, 2007. [abstract]
Oxidative Stress in Autism: Elevated Cerebellar 3-nitrotyrosine Levels Sajdel-Sulkowska, E., Lipinski, B., Windom, H., Audhya, T and McGinnis, W. Amer J of Biochem and Biotech 4:73-84, 2008. [paper]
Oxidative stress induced changes in cerebellar GFAP phosphorylation. Sajdel-Sulkowska, E.M. and Lipinski, B. IMFAR, 2006. [abstract]
PRKCB1 and autism: reduced gene expression in the temporal cortex of autistic brains, and significant association between PRKCB! gene variants and autistic disorder. Persico, A.M., Lintas, C., Sacco, R., Gaita, L., DOronzio, R., Garbett, K., Mirnics, K., Militerni, R., Bravaccio, C., Curatolo, P., Manzi, B., Schneider, C., Melmed, R. and Elia, M. SFN 2007, 61.16/W8 [abstract]
Possible interactions in autism between the gene encoding the MET receptor tyrosine kinase and genes encoding proteins that activate MET signaling. Campbell, D.B., Sutcliffe, J.S., Sacco, R., Persico, A.M. and Levitt, P. SFN 2007: 61.18W10 [abstract]
Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. A.E. Purcell, O.H. Jeon, A.W. Zimmerman, M.E. Blue, and J. Pevsner Neurology 57:1618-1628, 2001. [paper]
Potential role of oxidative stres-induced protein modifications in autism: cerebellar 3-nitrotyrosine levels. Sajdel-Sulkowska, E.M. and Lipinski, B. 8th Intl Congress Autism Europe, 2007. [abstract]
Proteomic Studies Identified a Single Nucleotide Polymorphism in Glyoxalase I as Autism Susceptibility Factor. Junaid, M., Kowal, D., Barua, M., Pullarkat, P., Brooks, S. and Pullarkat, R. American Journal of Medical Genetics 131A: 11-17, 2004. [paper]
Proteomic approach revealed glyoxylase I as a candidate gene for autism. Burua, M., Junaid, M.A., Pullarkat, P.S. and Pullarkat, R.K. IMFAR, November 1-2, 2002. [abstract]
Purkinje Cell Size is Reduced in Cerebellum of Patients with Autism. Fatemi, S.H., Halt, A., Realmuto, G., Earle, J., Kist, D., Thuras, P. and Merz, A. Cellular an d Molecular Neurobiology 22: 171-175, 2002. [paper]
Reduced Brain-Derived Neurotrophic Factor in the Cerebellum of Autistic Postmortem Brain Tissue: Implications for Serotonergic Pathways in the Pathogenesis of Autism. Lopez, R., Bhattacharjee, M. and Lee, D. The American Neurological Association, October 2001. [abstract]
Reduced Minicolumns In the Frontal Cortex of Patients with Autism. Buxhoeveden, D., Semendeferi, K., Buckwalter, J., Schenker, N., Switzer, R. and Courchesne, E. Neuropathology & Applied Neeurobiology 32: 483, 2006. [paper]
Reduced number of benzodiazepine binding sites in the hippocampal formation of autistic individuals. G. J. Blatt, J.T. Guptill, T.L. Kemper, and M.L. Bauman IMFAR, November 9-10, 2001. [abstract]
Reduction in anti-apoptotic protein Bcl-2 in autistic cerebellum. Fatemi, S.H., Halt, A., Stary, J., Realmuto, G. and Jalali-Mousavi, M. Molecular Neuroscience 12: 929-933, 2001. [paper]
Reelin Signaling Is Impaired in Autism. Fatemi, S.H., Snow, A., Stary, J., Araghi-Niknam, M., Reutiman, T., Lee, S., Brooks, A. and Pearce, D. Biol Psychiatry 57: 777-787, 2005. [paper]
Reelin gene expression and promoter methylation status in temporal cortex of autistic brains. Lintas, C., Papaleo, V., Garbett, K., Mirnics, K. and Persico, A.M. SFN 2007: 61-17W9 [abstract]
Region-specific cerebellar abnormalities in autism: protein and gene expression. Sajdel-Sulkowska, E.M. IMFAR, 2002. [abstract]
SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Lepagnol-Bestel, A., Maussion, G., Boda, B., Carona, A., Iwayama, Y., Delezoide, A., Moalic, J., Muller, D., Dean, B., Yashikawa, T., Gorwood, P., Buxbaum, J., Ramoz, N and Simonneau, M. Molecular Psychiatry 13: 385-397, 2008. [paper]
Serotonin receptors in the autisitic brain. Antzoulatos, E., Gibbs, T., Pugh, J., Bauman, M., Kemper, T. and Blatt, G. IMFAR, 2005. [abstract]
Serum antibrain antibody differences in mother of children with autistic disorders: A study with fetal human and rodent tissue. Singer, H., Morris, C., Gause, C., Gillin, P., Lee, L. and Zimmerman, A. IMFAR, 2007. [abstract]
Serum autoantibodies do not differentiate PANDAS and Tourette syndrome from controls. Singer, H., Hong, J., Yoon, D., Williams, P Neurology 65: 1701-1707, 2005. [paper]
Stereological Analysis of Amygdala Neuron Number in Autism Schumann, C. and Amaral, D. J of Neurscience, 26:7674-7679, 2006 [paper]
Stereological Evidence of Abnormal Cortical Organization in Individuals with Autism. Rosen, A. and Hutsler, J. International Meeting for Autism Research, Orlando, FL, 2002. [abstract]
Stereological Study of the Number and Size of Neurons in the Principal Olive in Autism. Thevarkunnel, S., Kemper, T., Bauman, M., Blatt, G. Presented at IMFAR 2005. [abstract]
Stereological estimation of the number of neurons in the human amygdaloid complex. Schumann, C.M., and Amaral, D.G. J of Comp Neurology 491: 320-329,2005. [paper]
Stereological estimation of the number of neurons in the human amygdaloid complex. Schumann, C.M., and Amaral, D.G. Society for Neuroscience, 2004. [abstract]
Structural correlates of functional deficits in Autism Spectrum Disorder. Wegiel, J., London, E., Choen, I., Flory, M., Wisniewski, T., Imaki, H., Kuchna, I., Wegiel, J., Ma, S., Nowicki, K., Wang, K. and Brown, T. IMFAR 2008. [abstract]
Synapses and purkinje cells in cerebellum in autism. Wen, G.Y. and Chen, J. IMFAR, November 1-2, 2002. [abstract]
The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression. Herzing, L., Kim, S., Cook, E. and Ledbetter, D. Am. J. Hum. Genet. 68: 1501-1505, 2001. [paper]
The Von Economo Neurons (VENs) Develop Mainly Postnatally in Fronto-Insular (FI) Cortex in Humans. Allman, J., Tetreault, N. and Hakeem, A. Society for Neuroscience Meeting, 2005. [abstract]
The autistic phenotype exhibits a remarkably localized modification of brain protein by products of free radical-induced lipid oxidation. Zhu, X., Evans, T., Sidlak, S., Lu, L., McGinnis, W., Castellani, R., Salomon R.G., Smith, M. and Perry, G. SFN 2007: 594-16/X12 [abstract]
When is the brain enlarged in autism? A meta-analysis of all brain size reports. Redcay, E., and Courchesne, E. [paper]
[3H]-Flunitrazepam-labeled Benzodiazepine Binding Sites in the Hippocampal Formation in Autism: A multiple concentration Autoradiographic Study. Guptill, J., Booker, A., Gibbs, T., Kemper, T., Bauman, M. and Blatt, G. J. Autism Dev Disord DOI10-1007/s10803-006-0226-7. [paper]