Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Abstract:

:Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.

journal_name

Neuron

journal_title

Neuron

authors

Tsai MH,Muir AM,Wang WJ,Kang YN,Yang KC,Chao NH,Wu MF,Chang YC,Porter BE,Jansen LA,Sebire G,Deconinck N,Fan WL,Su SC,Chung WH,Almanza Fuerte EP,Mehaffey MG,University of Washington Center for Mendelian Genomics.,Ng CC

doi

10.1016/j.neuron.2020.01.027

subject

Has Abstract

pub_date

2020-04-22 00:00:00

pages

237-245.e8

issue

2

eissn

0896-6273

issn

1097-4199

pii

S0896-6273(20)30053-2

journal_volume

106

pub_type

杂志文章

相关文献

NEURON文献大全
  • Waking State: Rapid Variations Modulate Neural and Behavioral Responses.

    abstract::The state of the brain and body constantly varies on rapid and slow timescales. These variations contribute to the apparent noisiness of sensory responses at both the neural and the behavioral level. Recent investigations of rapid state changes in awake, behaving animals have provided insight into the mechanisms by wh...

    journal_title:Neuron

    pub_type: 杂志文章,评审

    doi:10.1016/j.neuron.2015.09.012

    authors: McGinley MJ,Vinck M,Reimer J,Batista-Brito R,Zagha E,Cadwell CR,Tolias AS,Cardin JA,McCormick DA

    更新日期:2015-09-23 00:00:00

  • EphB forward signaling controls directional branch extension and arborization required for dorsal-ventral retinotopic mapping.

    abstract::We report that EphB receptors direct unique axonal behaviors required for mapping the dorsal-ventral (D-V) retinal axis along the lateral-medial (L-M) axis of the superior colliculus (SC). EphBs are expressed in a D-V gradient, ephrin-B1 in a L-M gradient in SC, and ephrin-B3 at its midline. EphBs and ephrin-Bs are ex...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(02)00799-7

    authors: Hindges R,McLaughlin T,Genoud N,Henkemeyer M,O'Leary D

    更新日期:2002-08-01 00:00:00

  • Differential regulation of AMPA receptor subunit trafficking by palmitoylation of two distinct sites.

    abstract::Modification of AMPA receptor function is a major mechanism for the regulation of synaptic transmission and underlies several forms of synaptic plasticity. Post-translational palmitoylation is a reversible modification that regulates localization of many proteins. Here, we report that palmitoylation of the AMPA recept...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2005.06.035

    authors: Hayashi T,Rumbaugh G,Huganir RL

    更新日期:2005-09-01 00:00:00

  • Complementary chimeric isoforms reveal Dscam1 binding specificity in vivo.

    abstract::Dscam1 potentially encodes 19,008 ectodomains of a cell recognition molecule of the immunoglobulin (Ig) superfamily through alternative splicing. Each ectodomain, comprising a unique combination of three variable (Ig) domains, exhibits isoform-specific homophilic binding in vitro. Although we have proposed that the ab...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2012.02.029

    authors: Wu W,Ahlsen G,Baker D,Shapiro L,Zipursky SL

    更新日期:2012-04-26 00:00:00

  • Olfactory axon pathfinding: who is the pied piper?

    abstract::Mammalian olfactory sensory neurons that express a particular odorant receptor (OR) project axons to the same few glomeruli in the olfactory bulb. In this issue of Neuron, Vassalli et al. use OR minigenes that coexpress histochemical markers and show that the determinants in the sensory neurons required to generate th...

    journal_title:Neuron

    pub_type: 评论,杂志文章,评审

    doi:10.1016/s0896-6273(02)00831-0

    authors: Ranganathan R,Buck LB

    更新日期:2002-08-15 00:00:00

  • The life cycle of Ca(2+) ions in dendritic spines.

    abstract::Spine Ca(2+) is critical for the induction of synaptic plasticity, but the factors that control Ca(2+) handling in dendritic spines under physiological conditions are largely unknown. We studied [Ca(2+)] signaling in dendritic spines of CA1 pyramidal neurons and find that spines are specialized structures with low end...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(02)00573-1

    authors: Sabatini BL,Oertner TG,Svoboda K

    更新日期:2002-01-31 00:00:00

  • Exploration Disrupts Choice-Predictive Signals and Alters Dynamics in Prefrontal Cortex.

    abstract::In uncertain environments, decision-makers must balance two goals: they must "exploit" rewarding options but also "explore" in order to discover rewarding alternatives. Exploring and exploiting necessarily change how the brain responds to identical stimuli, but little is known about how these states, and transitions b...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2017.12.007

    authors: Ebitz RB,Albarran E,Moore T

    更新日期:2018-01-17 00:00:00

  • High-affinity kainate receptor subunits are necessary for ionotropic but not metabotropic signaling.

    abstract::Kainate receptors signal through both ionotropic and metabotropic pathways. The high-affinity subunits, GluK4 and GluK5, are unique among the five receptor subunits, as they do not form homomeric receptors but modify the properties of heteromeric assemblies. Disruption of the Grik4 gene locus resulted in a significant...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2009.08.010

    authors: Fernandes HB,Catches JS,Petralia RS,Copits BA,Xu J,Russell TA,Swanson GT,Contractor A

    更新日期:2009-09-24 00:00:00

  • Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation.

    abstract::Acute gene inactivation using short hairpin RNA (shRNA, knockdown) in developing brain is a powerful technique to study genetic function; however, discrepancies between knockdown and knockout murine phenotypes have left unanswered questions. For example, doublecortin (Dcx) knockdown but not knockout shows a neocortica...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2014.04.036

    authors: Baek ST,Kerjan G,Bielas SL,Lee JE,Fenstermaker AG,Novarino G,Gleeson JG

    更新日期:2014-06-18 00:00:00

  • Hippocampal Theta Input to the Amygdala Shapes Feedforward Inhibition to Gate Heterosynaptic Plasticity.

    abstract::The dynamic interactions between hippocampus and amygdala are critical for emotional memory. Theta synchrony between these structures occurs during fear memory retrieval and may facilitate synaptic plasticity, but the cellular mechanisms are unknown. We report that interneurons of the mouse basal amygdala are activate...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2015.08.024

    authors: Bazelot M,Bocchio M,Kasugai Y,Fischer D,Dodson PD,Ferraguti F,Capogna M

    更新日期:2015-09-23 00:00:00

  • Low mobility of the Ca2+ buffers in axons of cultured Aplysia neurons.

    abstract::Cellular Ca2+ buffers determine amplitude and diffusional spread of neuronal Ca2+ signals. Fixed Ca2+ buffers tend to retard the signal and to lower the apparent diffusion coefficient (D(app)) of Ca2+, whereas mobile buffers contribute to Ca2+ redistribution. To estimate the impact of the expression of specific Ca2+-b...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(00)81247-7

    authors: Gabso M,Neher E,Spira ME

    更新日期:1997-03-01 00:00:00

  • Interaction between GRIP and liprin-alpha/SYD2 is required for AMPA receptor targeting.

    abstract::Interaction with the multi-PDZ protein GRIP is required for the synaptic targeting of AMPA receptors, but the underlying mechanism is unknown. We show that GRIP binds to the liprin-alpha/SYD2 family of proteins that interact with LAR receptor protein tyrosine phosphatases (LAR-RPTPs) and that are implicated in presyna...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(02)00640-2

    authors: Wyszynski M,Kim E,Dunah AW,Passafaro M,Valtschanoff JG,Serra-Pagès C,Streuli M,Weinberg RJ,Sheng M

    更新日期:2002-03-28 00:00:00

  • Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.

    abstract::Through specific intersubunit contacts, the four subunits of the nicotinic acetylcholine receptor assemble into an alpha 2 beta gamma delta pentamer. The specificity of subunit association leads to formation of proper ligand binding sites and to transport of assembled pentamers to the cell surface. To identify determi...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/0896-6273(95)90320-8

    authors: Kreienkamp HJ,Maeda RK,Sine SM,Taylor P

    更新日期:1995-03-01 00:00:00

  • The synaptic vesicle protein CSP alpha prevents presynaptic degeneration.

    abstract::Cysteine string protein alpha (CSPalpha)--an abundant synaptic vesicle protein that contains a DNA-J domain characteristic of Hsp40 chaperones--is thought to regulate Ca2+ channels and/or synaptic vesicle exocytosis. We now show that, in young mice, deletion of CSPalpha does not impair survival and causes no significa...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(04)00190-4

    authors: Fernández-Chacón R,Wölfel M,Nishimune H,Tabares L,Schmitz F,Castellano-Muñoz M,Rosenmund C,Montesinos ML,Sanes JR,Schneggenburger R,Südhof TC

    更新日期:2004-04-22 00:00:00

  • Intersecting circuits generate precisely patterned retinal waves.

    abstract::The developing retina generates spontaneous glutamatergic (stage III) waves of activity that sequentially recruit neighboring ganglion cells with opposite light responses (ON and OFF RGCs). This activity pattern is thought to help establish parallel ON and OFF pathways in downstream visual areas. The circuits that pro...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2013.05.012

    authors: Akrouh A,Kerschensteiner D

    更新日期:2013-07-24 00:00:00

  • A Neuroethics Backbone for the Evolving Canadian Brain Research Strategy.

    abstract::Building on Canada's strong traditions in neuroscience and ethics, neuroethics provides a backbone for the evolving Canadian Brain Research Strategy (CBRS) that, from the outset, incorporates ethically responsible discoveries in brain science into clinical, societal, educational, and commercial innovation. ...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2018.12.021

    authors: Illes J,Weiss S,Bains J,Chandler JA,Conrod P,De Koninck Y,Fellows LK,Groetzinger D,Racine E,Robillard JM,Sokolowski MB

    更新日期:2019-02-06 00:00:00

  • Redistribution of synaptic vesicle antigens is correlated with the disappearance of a transient synaptic zone in the developing cerebral cortex.

    abstract::To examine the distribution of synaptic vesicle antigens during development of the cerebral cortex, antibodies against synapsin I and p65 were used on sections of cat cerebral cortex between E40 and adulthood. In the adult, the layers of the cerebral cortex are immunoreactive for each of these antigens, while the whit...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/0896-6273(88)90078-5

    authors: Chun JJ,Shatz CJ

    更新日期:1988-06-01 00:00:00

  • A neural representation of categorization uncertainty in the human brain.

    abstract::The ability to classify visual objects into discrete categories ("friend" versus "foe"; "edible" versus "poisonous") is essential for survival and is a fundamental cognitive function. The cortical substrates that mediate this function, however, have not been identified in humans. To identify brain regions involved in ...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2006.01.032

    authors: Grinband J,Hirsch J,Ferrera VP

    更新日期:2006-03-02 00:00:00

  • The cadherin Flamingo mediates level-dependent interactions that guide photoreceptor target choice in Drosophila.

    abstract::Quantitative differences in cadherin activity have been proposed to play important roles in patterning connections between pre- and postsynaptic neurons. However, no examples of such a function have yet been described, and the mechanisms that would allow such differences to direct growth cones to specific synaptic tar...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2008.01.007

    authors: Chen PL,Clandinin TR

    更新日期:2008-04-10 00:00:00

  • Interaction of the N-ethylmaleimide-sensitive factor with AMPA receptors.

    abstract::Glutamate receptors mediate the majority of rapid excitatory synaptic transmission in the central nervous system (CNS) and play important roles in synaptic plasticity and neuronal development. Recently, protein-protein interactions with the C-terminal domain of glutamate receptor subunits have been shown to be involve...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(00)80548-6

    authors: Song I,Kamboj S,Xia J,Dong H,Liao D,Huganir RL

    更新日期:1998-08-01 00:00:00

  • Olfaction: diverse species, conserved principles.

    abstract::Olfaction is a vitally important sense for all animals. There are striking similarities between species in the organization of the olfactory pathway, from the nature of the odorant receptor proteins, to perireceptor processes, to the organization of the olfactory CNS, through odor-guided behavior and memory. These com...

    journal_title:Neuron

    pub_type: 杂志文章,评审

    doi:10.1016/j.neuron.2005.10.022

    authors: Ache BW,Young JM

    更新日期:2005-11-03 00:00:00

  • Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.

    abstract::Alzheimer's disease (AD) displays a long asymptomatic stage before dementia. We characterize AD stage-associated molecular networks by profiling 14,513 proteins and 34,173 phosphosites in the human brain with mass spectrometry, highlighting 173 protein changes in 17 pathways. The altered proteins are validated in two ...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2019.12.015

    authors: Bai B,Wang X,Li Y,Chen PC,Yu K,Dey KK,Yarbro JM,Han X,Lutz BM,Rao S,Jiao Y,Sifford JM,Han J,Wang M,Tan H,Shaw TI,Cho JH,Zhou S,Wang H,Niu M,Mancieri A,Messler KA,Sun X,Wu Z,Pagala V,High AA,Bi W,Zhan

    更新日期:2020-03-18 00:00:00

  • PlexinA1 signaling directs the segregation of proprioceptive sensory axons in the developing spinal cord.

    abstract::As different classes of sensory neurons project into the CNS, their axons segregate and establish distinct trajectories and target zones. One striking instance of axonal segregation is the projection of sensory neurons into the spinal cord, where proprioceptive axons avoid the superficial dorsal horn-the target zone o...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2006.10.032

    authors: Yoshida Y,Han B,Mendelsohn M,Jessell TM

    更新日期:2006-12-07 00:00:00

  • Elucidating the Molecular Basis for Inhibitory Neurotransmission Regulation by Artemisinins.

    abstract::The frontline anti-malarial drug artemisinin and its derivatives have also been implicated in modulating multiple mammalian cellular pathways, including the recent identification of targeting γ-aminobutyric acid type A receptor (GABAAR) signaling in the pancreas. Their molecular mechanism of action, however, remains e...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2019.01.001

    authors: Kasaragod VB,Hausrat TJ,Schaefer N,Kuhn M,Christensen NR,Tessmer I,Maric HM,Madsen KL,Sotriffer C,Villmann C,Kneussel M,Schindelin H

    更新日期:2019-02-20 00:00:00

  • Developmentally regulated expression of specific tau sequences.

    abstract::Tau protein undergoes a shift in its molecular mass and its electrophoretic complexity during early postnatal development. We have sequenced a tau cDNA from an adult rat brain expression library and have found two inserted sequences. One of these inserts predicts a fourth repeated sequence homologous to the other thre...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/0896-6273(89)90077-9

    authors: Kosik KS,Orecchio LD,Bakalis S,Neve RL

    更新日期:1989-04-01 00:00:00

  • Four GABAergic interneurons impose feeding restraint in Drosophila.

    abstract::Feeding is dynamically regulated by the palatability of the food source and the physiological needs of the animal. How consumption is controlled by external sensory cues and internal metabolic state remains under intense investigation. Here, we identify four GABAergic interneurons in the Drosophila brain that establis...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2014.05.006

    authors: Pool AH,Kvello P,Mann K,Cheung SK,Gordon MD,Wang L,Scott K

    更新日期:2014-07-02 00:00:00

  • A real-world size organization of object responses in occipitotemporal cortex.

    abstract::While there are selective regions of occipitotemporal cortex that respond to faces, letters, and bodies, the large-scale neural organization of most object categories remains unknown. Here, we find that object representations can be differentiated along the ventral temporal cortex by their real-world size. In a functi...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/j.neuron.2012.04.036

    authors: Konkle T,Oliva A

    更新日期:2012-06-21 00:00:00

  • Notch1 and Notch3 instructively restrict bFGF-responsive multipotent neural progenitor cells to an astroglial fate.

    abstract::Notch1 has been shown to induce glia in the peripheral nervous system. However, it has not been known whether Notch can direct commitment to glia from multipotent progenitors of the central nervous system. Here we present evidence that activated Notch1 and Notch3 promotes the differentiation of astroglia from the rat ...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(01)00179-9

    authors: Tanigaki K,Nogaki F,Takahashi J,Tashiro K,Kurooka H,Honjo T

    更新日期:2001-01-01 00:00:00

  • The Biology of Huntingtin.

    abstract::Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative disorder Huntington's disease (HD). The gene encoding huntingtin, HTT, and its dominantly inherited mutation were identified more than 20 years ago...

    journal_title:Neuron

    pub_type: 杂志文章,评审

    doi:10.1016/j.neuron.2016.02.003

    authors: Saudou F,Humbert S

    更新日期:2016-03-02 00:00:00

  • Neuropilin-2 is required in vivo for selective axon guidance responses to secreted semaphorins.

    abstract::Neuropilins are receptors for class 3 secreted semaphorins, most of which can function as potent repulsive axon guidance cues. We have generated mice with a targeted deletion in the neuropilin-2 (Npn-2) locus. Many Npn-2 mutant mice are viable into adulthood, allowing us to assess the role of Npn-2 in axon guidance ev...

    journal_title:Neuron

    pub_type: 杂志文章

    doi:10.1016/s0896-6273(00)80869-7

    authors: Giger RJ,Cloutier JF,Sahay A,Prinjha RK,Levengood DV,Moore SE,Pickering S,Simmons D,Rastan S,Walsh FS,Kolodkin AL,Ginty DD,Geppert M

    更新日期:2000-01-01 00:00:00