- Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Department of Bioregulation and Metabolism, Tokyo Metropolitan Institute of Medical Science, Tokyo 113 8613, Japan
Nature 441:885-9. 2006
- Loss of autophagy in the central nervous system causes neurodegeneration in mice
Laboratory of Frontier Science, Tokyo Metropolitan Institute of Medical Science, Bunkyo ku, Tokyo 113 8613, Japan
Nature 441:880-4. 2006
..Our results indicate that autophagy is essential for the survival of neural cells, and that impairment of autophagy is implicated in the pathogenesis of neurodegenerative disorders involving ubiquitin-containing inclusion bodies...
- Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
Nat Genet 36:585-95. 2004
..Our data provide proof-of-principle for the potential of inducing autophagy to treat Huntington disease...
- Membrane fusion: grappling with SNARE and SM proteins
Thomas C Sudhof
Department of Cellular and Molecular Physiology, Stanford University, Palo Alto, CA 94304, USA
Science 323:474-7. 2009
- Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C Sudhof
Neuroscience Institute, Department of Molecular and Cellular Physiology, Stanford University, 1050 Arastradero Road B249, Palo Alto, California 94304, USA
Nature 455:903-11. 2008
..In humans, alterations in genes encoding neurexins or neuroligins have recently been implicated in autism and other cognitive diseases, linking synaptic cell adhesion to cognition and its disorders...
- Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, United Kingdom
Cell 87:493-506. 1996
..This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies...
- In vivo reprogramming of adult pancreatic exocrine cells to beta-cells
Department of Stem Cell and Regenerative Biology, Howard Hughes Medical Institute, Harvard Stem Cell Institute, Harvard University, 7 Divinity Avenue, Cambridge, Massachusetts 02138, USA
Nature 455:627-32. 2008
..This study provides an example of cellular reprogramming using defined factors in an adult organ and suggests a general paradigm for directing cell reprogramming without reversion to a pluripotent stem cell state...
- miR-124 regulates adult neurogenesis in the subventricular zone stem cell niche
Li Chun Cheng
Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, New York, USA
Nat Neurosci 12:399-408. 2009
..Sox9 overexpression abolished neuronal differentiation, whereas Sox9 knockdown led to increased neuron formation. Thus miR-124-mediated repression of Sox9 is important for progression along the SVZ stem cell lineage to neurons...
- Single-stranded RNAs use RNAi to potently and allele-selectively inhibit mutant huntingtin expression
Departments of Pharmacology and Biochemistry, UT Southwestern Medical Center, 6001 Forest Park Road, Dallas, TX 75390 9041, USA
Cell 150:895-908. 2012
..These data demonstrate that chemically modified ss-siRNAs function through the RNAi pathway and provide allele-selective compounds for clinical development...
- Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
Science 277:1990-3. 1997
..Ubiquitin was also found in NIIs and DNs, which suggests that abnormal huntingtin is targeted for proteolysis but is resistant to removal. The aggregation of mutant huntingtin may be part of the pathogenic mechanism in HD...
- The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease
Amy N Packer
Department of Internal Medicine, University of Iowa, Iowa City, Iowa 52242, USA
J Neurosci 28:14341-6. 2008
..These data provide evidence for a double negative feedback loop between the REST silencing complex and the miRNAs it regulates...
- Molecular mechanisms and potential therapeutical targets in Huntington's disease
Department of Pharmacological Sciences and Centre for Stem Cell Research, Universita degli Studi di Milano, Milan, Italy
Physiol Rev 90:905-81. 2010
- Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
Christopher I Amos
Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
Nat Genet 40:616-22. 2008
..Haplotype analysis was consistent with there being a single risk variant in this region. We conclude that variation in a region of 15q25.1 containing nicotinic acetylcholine receptors genes contributes to lung cancer risk...
- The roles of intracellular protein-degradation pathways in neurodegeneration
David C Rubinsztein
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY
Nature 443:780-6. 2006
..However, enhancing macroautophagy with drugs such as rapamycin could offer a tractable therapeutic strategy for a number of these diseases...
- A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
GENSAT Project, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, Box 260, New York 10021, USA
Nature 425:917-25. 2003
..The atlas, library of BAC vectors and BAC transgenic mice generated in this screen provide a rich resource that allows a broad array of investigations not previously available to the neuroscience community...
- The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing
Eugene V Makeyev
Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
Mol Cell 27:435-48. 2007
..Thus, miR-124 promotes NS development, at least in part by regulating an intricate network of NS-specific alternative splicing...
- Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling
Howard Hughes Medical Institute, Cambridge, MA 02139, USA
Cell 136:1017-31. 2009
..Together, these results implicate DISC1 in GSK3beta/beta-catenin signaling pathways and provide a framework for understanding how alterations in this pathway may contribute to the etiology of psychiatric disorders...
- NeuN, a neuronal specific nuclear protein in vertebrates
R J Mullen
Department of Anatomy, University of Utah School of Medicine, Salt Lake City 84132
Development 116:201-11. 1992
..This mAb and the protein recognized by it serve as an excellent marker for neurons in the central and peripheral nervous systems in both the embryo and adult, and the protein may be important in the determination of neuronal phenotype...
- The molecular motor toolbox for intracellular transport
Ronald D Vale
Department of Cellular and Molecular Pharmacology, Howard Hughes Medical Institute, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
Cell 112:467-80. 2003
..Remarkably, fungi, parasites, plants, and animals have distinct subsets of Toolbox motors in their genomes, suggesting an underlying diversity of strategies for intracellular transport...
- Huntington's disease: from molecular pathogenesis to clinical treatment
Christopher A Ross
Departments of Psychiatry, Neurology, Pharmacology, and Neuroscience, and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Lancet Neurol 10:83-98. 2011
..Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset...
- Linking neurodevelopmental and synaptic theories of mental illness through DISC1
Nicholas J Brandon
Pfizer Neuroscience, Groton, Connecticut 06437, USA
Nat Rev Neurosci 12:707-22. 2011
- Identification and characterization of a spinal muscular atrophy-determining gene
Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale, Institut Necker, Hopital des Enfants Malades, Paris, France
Cell 80:155-65. 1995
..These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene...
- Induction of human neuronal cells by defined transcription factors
Zhiping P Pang
Department of Molecular and Cellular Physiology, Stanford University School of Medicine, 265 Campus Drive, Stanford, California 94305, USA
Nature 476:220-3. 2011
..These methods may facilitate robust generation of patient-specific human neurons for in vitro disease modelling or future applications in regenerative medicine...
- alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies
M G Spillantini
Medical Research Council Centre for Brain Repair and Department of Neurology, University of Cambridge, Robinson Way, Cambridge CB2 2PY, United Kingdom
Proc Natl Acad Sci U S A 95:6469-73. 1998
..These findings indicate that alpha-synuclein forms the major filamentous component of Lewy bodies and Lewy neurites...
- Synaptic targeting by Alzheimer's-related amyloid beta oligomers
Pascale N Lacor
Neurobiology and Physiology Department, Northwestern University, Evanston, Illinois 60208, USA5
J Neurosci 24:10191-200. 2004
..Results suggest the hypothesis that targeting and functional disruption of particular synapses by Abeta oligomers may provide a molecular basis for the specific loss of memory function in early AD...
- Coupling of the nucleus and cytoplasm: role of the LINC complex
Department of Anatomy and Cell Biology, University of Florida, Gainesville, FL 32610
J Cell Biol 172:41-53. 2006
..2005), support a model in which Sun proteins tether nesprins in the ONM via interactions spanning the PNS. In this way, Sun proteins and nesprins form a complex that links the nucleoskeleton and cytoskeleton (the LINC complex)...
- The interaction between N-WASP and the Arp2/3 complex links Cdc42-dependent signals to actin assembly
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
Cell 97:221-31. 1999
..Therefore, N-WASP and the Arp2/3 complex comprise a core mechanism that directly connects signal transduction pathways to the stimulation of actin polymerization...
- neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas
Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale Université Louis Pasteur, F 67404 Illkirch, France
Proc Natl Acad Sci U S A 97:1607-11. 2000
..Thus, ngn3 is required for the specification of a common precursor for the four pancreatic endocrine cell types...
- Neuroprotection in ischemia: blocking calcium-permeable acid-sensing ion channels
Zhi Gang Xiong
Robert S Dow Neurobiology Laboratories, Legacy Research, Portland, OR 97232, USA
Cell 118:687-98. 2004
..Thus, acidosis injures the brain via membrane receptor-based mechanisms with resultant toxicity of [Ca2+]i, disclosing new potential therapeutic targets for stroke...
- Pannexin-1 mediates large pore formation and interleukin-1beta release by the ATP-gated P2X7 receptor
Department of Biomedical Science, University of Sheffield, Sheffield, UK
EMBO J 25:5071-82. 2006
- ANKTM1, a TRP-like channel expressed in nociceptive neurons, is activated by cold temperatures
Gina M Story
Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
Cell 112:819-29. 2003
..Consistent with the expression of ANKTM1, we identify noxious cold-sensitive sensory neurons that also respond to capsaicin but not to menthol...
- Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy
Ana Maria Cuervo
Department of Anatomy and Structural Biology, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Science 305:1292-5. 2004
..These findings may underlie the toxic gain-of-function by the mutants...
- Vascular niche for adult hippocampal neurogenesis
T D Palmer
Stanford University, Department of Neurosurgery, Palo Alto, California 94305, USA
J Comp Neurol 425:479-94. 2000
..This environment may provide a novel interface where mesenchyme-derived cells and circulating factors influence plasticity in the adult central nervous system...
- CLIP identifies Nova-regulated RNA networks in the brain
Howard Hughes Medical Institute, Rockefeller University, New York, NY 10021, USA
Science 302:1212-5. 2003
..Thus, CLIP reveals that Nova coordinately regulates a biologically coherent set of RNAs encoding multiple components of the inhibitory synapse, an observation that may relate to the cause of abnormal motor inhibition in POMA...
- BAR domains as sensors of membrane curvature: the amphiphysin BAR structure
Brian J Peter
Medical Research Council MRC Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK
Science 303:495-9. 2004
..From this, we predict that BAR domains are in many protein families, including sorting nexins, centaurins, and oligophrenins. The universal and minimal BAR domain is a dimerization, membrane-binding, and curvature-sensing module...
- Lrig1 expression defines a distinct multipotent stem cell population in mammalian epidermis
Kim B Jensen
Laboratory for Epidermal Stem Cell Biology, Wellcome Trust Centre for Stem Cell Research, University of Cambridge, Cambridge, UK
Cell Stem Cell 4:427-39. 2009
..Our results suggest that Lrig1-positive cells constitute a previously unidentified reservoir of adult mouse interfollicular epidermal stem cells...
- Pannexin 1 channels mediate 'find-me' signal release and membrane permeability during apoptosis
Faraaz B Chekeni
Beirne B Carter Center for Immunology Research, University of Virginia, Charlottesville, Virginia 22908, USA
Nature 467:863-7. 2010
..Collectively, these data identify PANX1 as a plasma membrane channel mediating the regulated release of find-me signals and selective plasma membrane permeability during apoptosis, and a new mechanism of PANX1 activation by caspases...
- Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis
Holly B Kordasiewicz
Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
Neuron 74:1031-44. 2012
..Rather than requiring continuous treatment, our findings establish a therapeutic strategy for sustained HD disease reversal produced by transient ASO-mediated diminution of huntingtin synthesis...
- SNAP receptors implicated in vesicle targeting and fusion
Rockefeller Research Laboratory, Memorial Sloan Kettering Cancer Center, New York, New York 10021
Nature 362:318-24. 1993
- Mustard oils and cannabinoids excite sensory nerve fibres through the TRP channel ANKTM1
Sven Eric Jordt
Department of Cellular and Molecular Pharmacology University of California, San Francisco, California 94143 2140, USA
Nature 427:260-5. 2004
..These findings identify a cellular and molecular target for the pungent action of mustard oils and support an emerging role for TRP channels as ionotropic cannabinoid receptors...
- Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease
Department of Medical and Molecular Genetics, King s College London, London SE1 9RT, United Kingdom
Proc Natl Acad Sci U S A 110:2366-70. 2013
..RNA-targeted therapeutic strategies designed to lower the levels of HTT are under development. Many of these approaches would not prevent the production of exon 1 HTT and should be reviewed in light of our findings...
- Rare deletions at the neurexin 3 locus in autism spectrum disorder
Andrea K Vaags
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:133-41. 2012
..Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses...
- Protein aggregation and neurodegenerative disease
Christopher A Ross
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Ross Research Building, Room 618, 720 Rutland Avenue, Baltimore, Maryland 21205, USA
Nat Med 10:S10-7. 2004
..There is now increased understanding of the pathways involved in protein aggregation, and some recent clues have emerged as to the molecular mechanisms of cellular toxicity. These are leading to approaches toward rational therapeutics...
- Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
Department of Neurology, Columbia University, 710 West 168th Street, New York, New York 10032, USA
Nat Neurosci 10:615-22. 2007
..Identification of the astrocyte-derived soluble factor(s) may have far-reaching implications for ALS from both a pathogenic and therapeutic standpoint...
- Human melanoma-initiating cells express neural crest nerve growth factor receptor CD271
Alexander D Boiko
Institute for Stem Cell Biology and Regenerative Medicine, Stanford Cancer Center, Stanford University School of Medicine, Stanford, California 94304 5542, USA
Nature 466:133-7. 2010
- Dendritic spine pathology in neuropsychiatric disorders
Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Nat Neurosci 14:285-93. 2011
- The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc
Paul L Greer
Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
Cell 140:704-16. 2010
..We propose that this deregulation of AMPA receptor expression at synapses may contribute to the cognitive dysfunction that occurs in Angelman Syndrome and possibly other ASDs...
- Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Department of Molecular Human Genetics, Ruprecht Karls University, Heidelberg, Germany
Nat Genet 42:489-91. 2010
..Our findings further link common genes between ASD and intellectual disability...
- Vertebrate neurogenesis is counteracted by Sox1-3 activity
Ludwig Institute of Cancer Research, Karolinska Institute, Box 240, SE 171 77 Stockholm, Sweden
Nat Neurosci 6:1162-8. 2003
..These data suggest that the generation of neurons from stem cells depends on the inhibition of Sox1-3 expression by proneural proteins...
- Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
Ethan R Graf
Department of Anatomy and Neurobiology, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
Cell 119:1013-26. 2004
- Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California 90095, USA
J Neurosci 28:6182-95. 2008
..In summary, the BACHD model constitutes a novel and robust in vivo paradigm for the investigation of HD pathogenesis and treatment...
- Immune recognition. A new receptor for beta-glucans
G D Brown
Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK
Nature 413:36-7. 2001
..1), there is evidence that another beta-glucan receptor is present on macrophages. Here we identify this unknown receptor as dectin-1 (ref. 2), a finding that provides new insights into the innate immune recognition of beta-glucans...
- DISC1 regulates new neuron development in the adult brain via modulation of AKT-mTOR signaling through KIAA1212
Ju Young Kim
Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Neuron 63:761-73. 2009
- Roles of continuous neurogenesis in the structural and functional integrity of the adult forebrain
Institute for Virus Research, Kyoto University, Shogoin Kawahara, Sakyo ku, Kyoto 606 8507, Japan
Nat Neurosci 11:1153-61. 2008
- Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biophysics, Center for Neurobiology and Behavior, Columbia University, New York, New York 10032, USA
Neuron 23:659-74. 1999
..These findings show that HB9 has an essential function in consolidating the identity of postmitotic MNs...
- Disruption of two novel genes by a translocation co-segregating with schizophrenia
J K Millar
Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Molecular Medicine Centre and MRC Human Genetics Unit, both at Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Hum Mol Genet 9:1415-23. 2000
..Altogether, these observations indicate that DISC1 and DISC2 should be considered formal candidate genes for susceptibility to psychiatric illness...
- Neural stem and progenitor cells in nestin-GFP transgenic mice
John L Mignone
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
J Comp Neurol 469:311-24. 2004
- Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, USA
Nature 472:437-42. 2011
..Our findings demonstrate a critical role for SHANK3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic-like behaviours in mice...
- Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
Department of Psychiatry, Division of Neuropathology, Johns Hopkins University, Baltimore, MD 21205 2196, USA
Hum Mol Genet 8:397-407. 1999
..These findings are consistent with the idea that N-terminal fragments of huntingtin with a repeat expansion are toxic to neurons, and that N-terminal fragments are prone to form both intranuclear inclusions and neuritic aggregates...
- Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
Department of Molecular and Cell Biology, University of California, Berkeley 94720, USA
Cell 101:657-69. 2000
..Our results suggest that neuroligins are part of the machinery employed during the formation and remodeling of CNS synapses...
- Neural circuitry that governs Drosophila male courtship behavior
Institute of Molecular Biotechnology of the Austrian Academy of Sciences, A 1030 Vienna, Austria
Cell 121:795-807. 2005
..This circuit includes olfactory neurons required for the behavioral response to sex pheromones. Anatomical differences in this circuit that might account for the dramatic differences in male and female sexual behavior are not apparent...
- ATP signaling is deficient in cultured Pannexin1-null mouse astrocytes
Sylvia O Suadicani
Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Glia 60:1106-16. 2012
..Thus, on the basis of our present findings and our previous report, we propose that Panx1 channels serve as K(+) sensors for changes in the extracellular milieu such as those occurring under pathological conditions...
- Induction of pancreatic differentiation by signals from blood vessels
Department of Molecular and Cellular Biology, Howard Hughes Medical Institute, Harvard University, 7 Divinity Avenue, Cambridge, MA 02138, USA
Science 294:564-7. 2001
..These results indicate that vessels not only provide metabolic sustenance, but also provide inductive signals for organ development...
- Neuroligin 2 is exclusively localized to inhibitory synapses
Max Planck Institute for Experimental Medicine, Department of Molecular Neurobiology, Gottingen, Germany
Eur J Cell Biol 83:449-56. 2004
..Our findings identify neuroligin 2 as a new cell adhesion protein specific for inhibitory synapses and open new avenues for identifiying the constituents of this unique type of postsynaptic specialization...
- Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila
Dhananjay A Wagh
Lehrstuhl für Genetik und Neurobiologie, Theodor Boveri Institut für Biowissenschaften, Am Hubland, D 97074 Wurzburg, Germany
Neuron 49:833-44. 2006
..We propose that BRP is critical for intact AZ structure and normal-evoked neurotransmitter release at chemical synapses of Drosophila...
- Isolation and characterization of multipotent skin-derived precursors from human skin
Jean G Toma
Department of Developmental Biology, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
Stem Cells 23:727-37. 2005
..Together, these data indicate that SKPs are an endogenous multipotent precursor cell present in human skin that can be isolated and expanded and differentiate into both neural and mesodermal cell types...
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M Durand
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
Nat Genet 39:25-7. 2007
..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
- Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Nature 452:713-8. 2008
..This model provides mechanistic insight into the molecular pathogenesis of SCA1 as well as other polyglutamine diseases...
- The pannexin 1 channel activates the inflammasome in neurons and astrocytes
William R Silverman
Department of Physiology and Biophysics, University of Miami School of Medicine, Miami, Florida 33136, USA
J Biol Chem 284:18143-51. 2009
..Thus, in contrast to macrophages and monocytes in which low intracellular K(+) has been suggested to trigger inflammasome activation, in neural cells, high extracellular K(+) activates caspase-1 probably through pannexin 1...
- Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
J S Steffan
Department of Psychiatry and Human Behavior, Gillespie 2121, University of California, Irvine, California 92697, USA
Nature 413:739-43. 2001
..These findings raise the possibility that therapy with HDAC inhibitors may slow or prevent the progressive neurodegeneration seen in Huntington's disease and other polyglutamine-repeat diseases, even after the onset of symptoms...
- HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin
Department of Biological Sciences, Bio X Program, Stanford University, Stanford, California 94305 5430, USA
J Biol Chem 280:40282-92. 2005
..These data suggest that HDAC6-dependent retrograde transport on microtubules is used by cells to increase the efficiency and selectivity of autophagic degradation...
- Neuroligins determine synapse maturation and function
Department of Molecular Neurobiology and Center for the Molecular Physiology of the Brain, Max Planck Institute of Experimental Medicine, D 37075 Gottingen, Germany
Neuron 51:741-54. 2006
..Our data show that neuroligins are required for proper synapse maturation and brain function, but not for the initial formation of synaptic contacts...
- Neurexin-neuroligin signaling in synapse development
Ann Marie Craig
Brain Research Centre, University of British Columbia, 2211 Wesbrook Mall, Vancouver V6T 2B5, Canada
Curr Opin Neurobiol 17:43-52. 2007
- Linear ubiquitination prevents inflammation and regulates immune signalling
Tumour Immunology Unit, Department of Medicine, Imperial College London, W12 0NN London, UK
Nature 471:591-6. 2011
..Our results provide evidence for the relevance of linear ubiquitination in vivo in preventing inflammation and regulating immune signalling...
- Activity-dependent proteolytic cleavage of neuroligin-1
Department of Neuropathology and Neuroscience, The University of Tokyo, Hongo 7 3 1, Bunkyo, Tokyo 113 0033, Japan
Neuron 76:410-22. 2012
..Collectively, neuronal activity-dependent proteolytic processing of NLG1 may negatively regulate the remodeling of spines at excitatory synapses...
- Differentiation of mouse embryonic stem cells into a defined neuronal lineage
Friedrich Miescher Institute, CH 4058 Basel, Switzerland
Nat Neurosci 7:1003-9. 2004
..As they do in vivo, these cells went on to generate neurons with remarkably uniform biochemical and electrophysiological characteristics...
- The immediate early gene arc/arg3.1: regulation, mechanisms, and function
Clive R Bramham
Department of Biomedicine and Bergen Mental Health Research Center, University of Bergen, 5009 Bergen, Norway
J Neurosci 28:11760-7. 2008
..In sum, Arc is emerging as a versatile, finely tuned system capable of coupling changes in neuronal activity patterns to diverse forms of synaptic plasticity, thereby optimizing information storage in active networks...
- Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior
Departments of Neurology and Psychiatry, The University of Texas Southwestern Medical Center, Dallas, Texas, 75390 8813, USA
J Neurosci 30:2115-29. 2010
- Altered microRNA regulation in Huntington's disease models
Soon Tae Lee
Neurodegeneration Research Laboratory, Department of Neurology, Clinical Research Institute, Seoul National University Hospital, Seoul, South Korea
Exp Neurol 227:172-9. 2011
..Our results show that transgenic HD mice have abnormal miRNA biogenesis. This information should aid in future studies on therapeutic application of miRNAs in HD...
- The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes
C J Schoenherr
Division of Biology 216 76, California Institute of Technology, Pasadena 91125
Science 267:1360-3. 1995
..NRSF represents the first example of a vertebrate silencer protein that potentially regulates a large battery of cell type-specific genes, and therefore may function as a master negative regulator of neurogenesis...
- A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
Roche Institute of Molecular Biology, Hoffman La Roche, Nutley, New Jersey 07110, USA
Nature 374:719-23. 1995
..The encoded protein resembles extracellular matrix proteins involved in cell adhesion. The reeler phenotype thus seems to reflect a failure of early events associated with brain lamination which are normally controlled by reelin...
- Arc in synaptic plasticity: from gene to behavior
Gladstone Institute of Neurological Disease, San Francisco, CA, USA
Trends Neurosci 34:591-8. 2011
..We will also attempt to clarify how its molecular functions correspond to its requirement in various forms of plasticity, discuss Arc's role in behavior and disease, and highlight critical unresolved questions...
- Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
M H Polymeropoulos
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
Science 276:2045-7. 1997
..This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder...
- Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
Nat Genet 18:106-8. 1998
- CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Department of Pharmacology, Kyoto University Faculty of Medicine, Japan
Nat Genet 8:221-8. 1994
..Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD...
- Miniature neurotransmission stabilizes synaptic function via tonic suppression of local dendritic protein synthesis
Michael A Sutton
Division of Biology 114 96, California Institute of Technology, Pasadena, CA 91125, USA
Cell 125:785-99. 2006
..These results indicate that NMDAR signaling during miniature synaptic transmission serves to stabilize synaptic function through active suppression of dendritic protein synthesis...
- The Arc of synaptic memory
Clive R Bramham
Department of Biomedicine and Bergen Mental Health Research Center, University of Bergen, Jonas Lies vei 91, 5009, Bergen, Norway
Exp Brain Res 200:125-40. 2010
..Arc holds considerable promise as a "master regulator" of protein synthesis-dependent forms of synaptic plasticity, but the mechanisms that modulate and switch Arc function are only beginning to be elucidated...
- Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
Department of Developmental and Molecular Biology, Institute for Aging Studies, Albert Einstein College of Medicine, Bronx, New York, USA
Nat Neurosci 13:567-76. 2010
..We propose that inefficient engulfment of cytosolic components by autophagosomes is responsible for their slower turnover, functional decay and accumulation inside HD cells...
- SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis
Frankfurt Institute for Molecular Life Sciences and Institute of Biochemistry II, Goethe University School of Medicine, Theodor Stern Kai 7, D 60590 Frankfurt, Main, Germany
Nature 471:637-41. 2011
..In addition, SHARPIN deficiency leads to rapid cell death upon tumour-necrosis factor α (TNF-α) stimulation via FADD- and caspase-8-dependent pathways. SHARPIN thus activates NF-κB and inhibits apoptosis via distinct pathways in vivo...
- Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2
Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235 9046, USA
Cell 97:689-701. 1999
..These findings suggest that VLDLR and ApoER2 participate in transmitting the extracellular Reelin signal to intracellular signaling processes initiated by mDab1...
- The autistic neuron: troubled translation?
Raymond J Kelleher
Center for Human Genetic Research, Harvard Partners Center for Genetics and Genomics, Massachusetts General Hospital, Program in Neuroscience and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
Cell 135:401-6. 2008
..We propose that aberrant synaptic protein synthesis may represent one possible pathway leading to autistic phenotypes, including cognitive impairment and savant abilities...
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C Elden
Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Nature 466:1069-75. 2010
..Furthermore, these findings indicate that the TDP-43-ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TDP-43 proteinopathies...
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Laboratoire de génétique humaine et fonctions cognitives, Universite Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France
Nat Genet 34:27-9. 2003
..These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism...
- Reelin and brain development
Developmental Genetics Unit, Universite Catholique de Louvain, UCL 7382, 73 Avenue E Mounier, B1200 Brussels, Belgium
Nat Rev Neurosci 4:496-505. 2003
- Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats
Liliana B Menalled
Department of Neurology, University of California at Los Angeles, Los Angeles, California 90095, USA
J Comp Neurol 465:11-26. 2003
..Because of their early behavioral anomalies and regionally specific pathology, these mice provide a powerful tool with which to evaluate the effectiveness of new therapies and to study the mechanisms involved in the neuropathology of HD...
- CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
Am J Hum Genet 85:655-66. 2009
..We therefore propose that an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and CNTNAP2...
- Disrupted-in-Schizophrenia 1 (DISC1) regulates spines of the glutamate synapse via Rac1
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nat Neurosci 13:327-32. 2010
..Furthermore, the concept of a signalosome involving disease-associated factors, such as DISC1 and glutamate, may well contribute to the multifactorial and polygenetic characteristics of schizophrenia...
- Wallerian degeneration, wld(s), and nmnat
Michael P Coleman
Laboratory of Molecular Signaling, The Babraham Institute, Cambridge CB223AT, United Kingdom
Annu Rev Neurosci 33:245-67. 2010
- Human neuroblasts migrate to the olfactory bulb via a lateral ventricular extension
Maurice A Curtis
Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
Science 315:1243-9. 2007
- The DISC locus in psychiatric illness
J E Chubb
Medical Genetics Section, The Centre for Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, UK
Mol Psychiatry 13:36-64. 2008
..DISC1 is a hub protein in a multidimensional risk pathway for major mental illness, and studies of this pathway are opening up opportunities for a better understanding of causality and possible mechanisms of intervention...
- Characterization of the proteome, diseases and evolution of the human postsynaptic density
Genes to Cognition Programme, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire, UK
Nat Neurosci 14:19-21. 2011
..The hPSD is an important structure for nervous system disease and behavior...