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Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/(sici)1522-2683(19991201)20:18<3551::aid-elps3551>3.0.co;2-2openalex-snapshot
Probability-based protein identification by searching sequence databases using mass spectrometry data
inferredcites →https://doi.org/10.1002/1096-8628(20010115)98:2<191::aid-ajmg1030>3.0.co;2-mopenalex-snapshot
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
inferredcites →https://doi.org/10.1002/ajmg.a.31294openalex-snapshot
The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome
inferredcites →https://doi.org/10.1002/dneu.20704openalex-snapshot
Myosin‐II negatively regulates minor process extension and the temporal development of neuronal polarity
inferredcites →https://doi.org/10.1002/elps.200500286openalex-snapshot
Two‐dimensional gel electrophoresis maps of the proteome and phosphoproteome of primitively cultured rat mesangial cells
inferredcites →https://doi.org/10.1002/neu.10267openalex-snapshot
Regulation of the neuronal actin cytoskeleton by ADF/cofilin
inferredcites →https://doi.org/10.1002/neu.20153openalex-snapshot
Rho GTPases, dendritic structure, and mental retardation
inferredcites →https://doi.org/10.1002/rcm.1198openalex-snapshot
A method for reducing the time required to match protein sequences with tandem mass spectra
inferredcites →https://doi.org/10.1007/s00109-007-0165-6openalex-snapshot
LIM kinases: function, regulation and association with human disease
inferredcites →https://doi.org/10.1016/0092-8674(94)90552-5openalex-snapshot
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor
inferredcites →https://doi.org/10.1016/j.bbrc.2007.04.135openalex-snapshot
Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin1A receptor: Implications in SLOS
inferredcites →https://doi.org/10.1016/j.biocel.2006.11.011openalex-snapshot
Lim kinases, regulators of actin dynamics
inferredcites →https://doi.org/10.1016/j.cell.2004.11.003openalex-snapshot
The Importance of Dendritic Mitochondria in the Morphogenesis and Plasticity of Spines and Synapses
inferredcites →https://doi.org/10.1016/j.ymgme.2004.09.017openalex-snapshot
3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome
inferredcites →https://doi.org/10.1016/s0079-6123(04)47022-8openalex-snapshot
Rho proteins, mental retardation and the neurobiological basis of intelligence
inferredcites →https://doi.org/10.1016/s0896-6273(02)00758-4openalex-snapshot
Abnormal Spine Morphology and Enhanced LTP in LIMK-1 Knockout Mice
inferredcites →https://doi.org/10.1016/s0896-6273(04)00157-6openalex-snapshot
Lipid Rafts Mediate Chemotropic Guidance of Nerve Growth Cones
inferredcites →https://doi.org/10.1021/ac025747hopenalex-snapshot
Empirical Statistical Model To Estimate the Accuracy of Peptide Identifications Made by MS/MS and Database Search
inferredcites →https://doi.org/10.1021/ac0341261openalex-snapshot
A Statistical Model for Identifying Proteins by Tandem Mass Spectrometry
inferredcites →https://doi.org/10.1038/1675openalex-snapshot
PAK3 mutation in nonsyndromic X-linked mental retardation
inferredcites →https://doi.org/10.1038/35044547openalex-snapshot
RHO GTPASES in neuronal morphogenesis
inferredcites →https://doi.org/10.1038/72920openalex-snapshot
Rho GTPases regulate distinct aspects of dendritic arbor growth in Xenopus central neurons in vivo
inferredcites →https://doi.org/10.1038/80002openalex-snapshot
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
inferredcites →https://doi.org/10.1038/ejhg.2008.10openalex-snapshot
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
inferredcites →https://doi.org/10.1038/ng0796-272openalex-snapshot
LIM–kinase deleted in Williams syndrome
inferredcites →https://doi.org/10.1038/nrd2221openalex-snapshot
Post-translational modifications and regulation of the RAS superfamily of GTPases as anticancer targets
inferredcites →https://doi.org/10.1038/sj.ejhg.5200553openalex-snapshot
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
inferredcites →https://doi.org/10.1073/pnas.0807840105openalex-snapshot
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model
inferredcites →https://doi.org/10.1073/pnas.95.14.8181openalex-snapshot
Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
inferredcites →https://doi.org/10.1074/jbc.c000635200openalex-snapshot
Rac/Cdc42 and p65PAK Regulate the Microtubule-destabilizing Protein Stathmin through Phosphorylation at Serine 16
inferredcites →https://doi.org/10.1074/jbc.m600395200openalex-snapshot
Cholesterol Precursors Stabilize Ordinary and Ceramide-rich Ordered Lipid Domains (Lipid Rafts) to Different Degrees
inferredcites →https://doi.org/10.1084/jem.20051701openalex-snapshot
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness
inferredcites →https://doi.org/10.1086/301936openalex-snapshot
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
inferredcites →https://doi.org/10.1086/301982openalex-snapshot
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
inferredcites →https://doi.org/10.1093/brain/awg173openalex-snapshot
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
inferredcites →https://doi.org/10.1093/embo-reports/kve094openalex-snapshot
The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism
inferredcites →https://doi.org/10.1093/hmg/10.6.555openalex-snapshot
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
inferredcites →https://doi.org/10.1093/hmg/ddg172openalex-snapshot
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
inferredcites →https://doi.org/10.1093/hmg/ddl003openalex-snapshot
Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy
inferredcites →https://doi.org/10.1093/hmg/ddn278openalex-snapshot
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome
inferredcites →https://doi.org/10.1111/j.1399-0004.2005.00515.xopenalex-snapshot
Recent insights into the Smith–Lemli–Opitz syndrome
inferredcites →https://doi.org/10.1111/j.1471-4159.2007.05125.xopenalex-snapshot
Myosin IIA is required for neurite outgrowth inhibition produced by repulsive guidance molecule
inferredcites →https://doi.org/10.1126/science.1124875openalex-snapshot
A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria
inferredcites →https://doi.org/10.1126/science.274.5285.255openalex-snapshot
Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development
inferredcites →https://doi.org/10.1136/jmg.40.6.441openalex-snapshot
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
inferredcites →https://doi.org/10.1172/jci12103openalex-snapshot
7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
inferredcites →https://doi.org/10.1172/jci200112103openalex-snapshot
7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
inferredcites →https://doi.org/10.1194/jlr.m300232-jlr200openalex-snapshot
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome
inferredcites →https://doi.org/10.1194/jlr.m500306-jlr200openalex-snapshot
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome
inferredcites →https://doi.org/10.1194/jlr.m600141-jlr200openalex-snapshot
The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols
inferredcites →https://doi.org/10.1194/jlr.m600295-jlr200openalex-snapshot
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol
inferredcites →https://doi.org/10.1242/jcs.02906openalex-snapshot
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature
inferredcites →https://doi.org/10.2741/2710openalex-snapshot
Diverse roles of Rho family GTPases in neuronal development, survival, and death
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.3805160openalex-extracted
Sterols Lower Energetic Barriers of Membrane Bending and Fission Necessary for Efficient Clathrin Mediated Endocytosis
inferred← citeshttps://doi.org/10.1002/ajmg.a.37720openalex-snapshot
Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.38563openalex-snapshot
Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome
inferred← citeshttps://doi.org/10.1002/aur.1777openalex-snapshot
The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper
inferred← citeshttps://doi.org/10.1002/cnr2.70376openalex-snapshot
DHCR7 as a Prognostic and Immunological Biomarker in Human Pan‐Cancer: A Comprehensive Evaluation
inferred← citeshttps://doi.org/10.1007/978-1-4939-2250-5_2openalex-snapshot
The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis
inferred← citeshttps://doi.org/10.1016/bs.irn.2023.08.011openalex-snapshot
Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1016/j.bmc.2015.10.041openalex-snapshot
Discovery of bis-aryl urea derivatives as potent and selective Limk inhibitors: Exploring Limk1 activity and Limk1/ROCK2 selectivity through a combined computational study
inferred← citeshttps://doi.org/10.1016/j.brainres.2014.01.005openalex-snapshot
β-Asarone prevents autophagy and synaptic loss by reducing ROCK expression in asenescence-accelerated prone 8 mice
inferred← citeshttps://doi.org/10.1016/j.celrep.2021.110008openalex-snapshot
Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis
inferred← citeshttps://doi.org/10.1016/j.drudis.2011.08.004openalex-snapshot
HIV-1 proteins join the family of LIM kinase partners. New roads open up for HIV-1 treatment
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104426openalex-snapshot
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
inferred← citeshttps://doi.org/10.1016/j.jsbmb.2026.106935openalex-snapshot
Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome
inferred← citeshttps://doi.org/10.1016/j.nbd.2011.12.011openalex-snapshot
DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2018.01.014openalex-snapshot
Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”
inferred← citeshttps://doi.org/10.1016/j.neuron.2012.09.038openalex-snapshot
ADF/Cofilin-Mediated Actin Retrograde Flow Directs Neurite Formation in the Developing Brain
inferred← citeshttps://doi.org/10.1016/j.neuroscience.2010.07.038openalex-snapshot
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome
inferred← citeshttps://doi.org/10.1016/j.placenta.2011.01.011openalex-snapshot
Review: Transport of maternal cholesterol to the fetal circulation
inferred← citeshttps://doi.org/10.1021/acs.jproteome.5c00282openalex-snapshot
Altered Cerebrospinal Fluid Proteins in Smith–Lemli–Opitz Syndrome
inferred← citeshttps://doi.org/10.1038/nm.4067openalex-snapshot
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes
inferred← citeshttps://doi.org/10.1074/jbc.c109.097220openalex-snapshot
Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype
inferred← citeshttps://doi.org/10.1074/jbc.m114.569657openalex-snapshot
Rho GTPases RhoA and Rac1 Mediate Effects of Dietary Folate on Metastatic Potential of A549 Cancer Cells through the Control of Cofilin Phosphorylation
inferred← citeshttps://doi.org/10.1074/mcp.m900548-mcp200openalex-snapshot
Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis
inferred← citeshttps://doi.org/10.1091/mbc.e11-10-0867openalex-snapshot
Negative regulation of RhoA translation and signaling by hnRNP-Q1 affects cellular morphogenesis
inferred← citeshttps://doi.org/10.1101/055533openalex-snapshot
Living Neural Networks: Dynamic Network Analysis of Developing Neural Progenitor Cells
inferred← citeshttps://doi.org/10.1111/j.1462-5822.2011.01716.xopenalex-snapshot
The Type VI secretion system of Burkholderia cenocepacia affects multiple Rho family GTPases disrupting the actin cytoskeleton and the assembly of NADPH oxidase complex in macrophages
inferred← citeshttps://doi.org/10.1155/2014/619050openalex-snapshot
Thapsigargin Induces Apoptosis by Impairing Cytoskeleton Dynamics in Human Lung Adenocarcinoma Cells
inferred← citeshttps://doi.org/10.1159/000362363openalex-snapshot
Desmosterol in Brain Is Elevated because DHCR24 Needs REST for Robust Expression but REST Is Poorly Expressed
inferred← citeshttps://doi.org/10.1194/jlr.m014498openalex-snapshot
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome
inferred← citeshttps://doi.org/10.1194/jlr.r009548openalex-snapshot
Malformation syndromes caused by disorders of cholesterol synthesis
inferred← citeshttps://doi.org/10.1242/dmm.049843openalex-snapshot
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk
inferred← citeshttps://doi.org/10.12968/indn.2012.16.4.91038openalex-snapshot
The role of cholesterol
inferred← citeshttps://doi.org/10.1371/journal.pone.0047845openalex-snapshot
Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight
inferred← citeshttps://doi.org/10.1523/jneurosci.1352-11.2012openalex-snapshot
Critical Time Window of Neuronal Cholesterol Synthesis during Neurite Outgrowth
inferred← citeshttps://doi.org/10.32607/20758251-2016-8-1-58-73openalex-snapshot
Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction
inferred← citeshttps://doi.org/10.3389/fncel.2019.00324openalex-snapshot
Caveolin-1 Phosphorylation Is Essential for Axonal Growth of Human Neurons Derived From iPSCs
inferred← citeshttps://doi.org/10.3389/fnmol.2021.746211openalex-snapshot
Membrane Cholesterol Is a Critical Determinant for Hippocampal Neuronal Polarity
inferred← citeshttps://doi.org/10.3390/genes13020246openalex-snapshot
Differential Gene Expression Analysis of SoCBL Family Calcineurin B-like Proteins: Potential Involvement in Sugarcane Cold Stress
inferred← citeshttps://doi.org/10.7554/elife.67141openalex-snapshot
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
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