HUDA ZOGHBI to Mice
This is a "connection" page, showing publications HUDA ZOGHBI has written about Mice.
Connection Strength
4.787
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Functional divergence of Capicua isoforms explains differential tissue vulnerability in neurological disease. Genes Dev. 2026 Aug 03; 40(15-16):1267-1282.
Score: 0.074
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Single-nucleus profiling reveals a core disease signature and cell type-specific vulnerabilities in early Rett syndrome. Sci Adv. 2026 Jun 12; 12(24):eaeb4265.
Score: 0.073
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Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome. Sci Transl Med. 2026 Mar 04; 18(839):eadq4529.
Score: 0.072
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MeCP2 interacts with the super elongation complex to regulate transcription. Sci Adv. 2025 11 28; 11(48):eadt5937.
Score: 0.070
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Alpha-Synuclein Phosphomimetic Y39E and S129D Knock-In Mice Show Cytosolic Alpha-Synuclein Localization without Developing Neurodegeneration or Motor Deficits. eNeuro. 2025 Apr; 12(4).
Score: 0.067
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Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis. Neuron. 2025 Feb 05; 113(3):380-395.e8.
Score: 0.066
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TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model. Nat Neurosci. 2024 Dec; 27(12):2417-2429.
Score: 0.065
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Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet. 2024 11 08; 33(22):1986-2001.
Score: 0.065
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Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice. Proc Natl Acad Sci U S A. 2024 Sep 24; 121(39):e2406479121.
Score: 0.065
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A single-cell transcriptomic map of the developing Atoh1 lineage identifies neural fate decisions and neuronal diversity in the hindbrain. Dev Cell. 2024 08 19; 59(16):2171-2188.e7.
Score: 0.064
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The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina. eNeuro. 2023 11; 10(11).
Score: 0.061
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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900.
Score: 0.060
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Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation. Sci Adv. 2023 06 30; 9(26):eadg1671.
Score: 0.059
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MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function. Elife. 2023 02 27; 12.
Score: 0.058
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Evolutionarily conserved regulators of tau identify targets for new therapies. Neuron. 2023 03 15; 111(6):824-838.e7.
Score: 0.057
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Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 02 15; 111(4):481-492.e8.
Score: 0.057
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Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep; 18(9):463-71.
Score: 0.056
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Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. J Clin Invest. 2022 05 02; 132(9).
Score: 0.055
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Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 04 22; 7(8).
Score: 0.055
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A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. 2022 05 18; 110(10):1689-1699.e6.
Score: 0.054
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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021 04; 592(7855):596-600.
Score: 0.051
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Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions. Genes Dev. 2021 04 01; 35(7-8):489-494.
Score: 0.051
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Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. EMBO J. 2021 04 01; 40(7):e106106.
Score: 0.051
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Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome. Sci Transl Med. 2021 03 03; 13(583).
Score: 0.051
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Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3).
Score: 0.050
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Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 2021 01 26; 10.
Score: 0.050
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MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons. J Neurosci. 2020 11 04; 40(45):8746-8766.
Score: 0.049
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miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. Genes Dev. 2020 09 01; 34(17-18):1147-1160.
Score: 0.049
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Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9.
Score: 0.047
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A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516.
Score: 0.044
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.
Score: 0.044
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RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep. 2018 10 16; 25(3):726-736.e7.
Score: 0.043
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PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. Hum Mol Genet. 2018 08 15; 27(16):2863-2873.
Score: 0.042
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Mouse models as a tool for discovering new neurological diseases. Neurobiol Learn Mem. 2019 11; 165:106902.
Score: 0.042
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Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nat Neurosci. 2018 06; 21(6):794-798.
Score: 0.042
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Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Dis Model Mech. 2018 02 26; 11(2).
Score: 0.041
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.041
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Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):E1511-E1519.
Score: 0.041
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Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. Elife. 2017 11 23; 6.
Score: 0.040
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An RNA interference screen identifies druggable regulators of MeCP2 stability. Sci Transl Med. 2017 Aug 23; 9(404).
Score: 0.040
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An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594.
Score: 0.039
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Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. 2017 Apr 19; 94(2):294-303.e4.
Score: 0.039
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Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Hum Mol Genet. 2016 12 01; 25(23):5083-5093.
Score: 0.038
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TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 2016 10 25; 5.
Score: 0.037
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Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. 2016 Oct 19; 92(2):407-418.
Score: 0.037
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Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17; 91(4):739-747.
Score: 0.037
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Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5.
Score: 0.037
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Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 2016 06 21; 5.
Score: 0.037
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Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 2015 Dec 17; 4.
Score: 0.035
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Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. 2015 Dec 03; 528(7580):123-6.
Score: 0.035
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Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 2015 Nov 18; 88(4):651-8.
Score: 0.035
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MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 03; 125(8):2914-23.
Score: 0.034
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MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14.
Score: 0.034
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Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Hum Mol Genet. 2015 Apr 01; 24(7):1813-23.
Score: 0.033
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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3.
Score: 0.032
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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
Score: 0.030
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RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331.
Score: 0.030
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An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28; 152(5):984-96.
Score: 0.029
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Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 06; 75(5):799-809.
Score: 0.028
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Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11.
Score: 0.027
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Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011 Nov 04; 334(6056):690-3.
Score: 0.026
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ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011 Oct 18; 21(4):746-57.
Score: 0.026
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Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 08; 3(86):86ra49.
Score: 0.026
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Adult neural function requires MeCP2. Science. 2011 Jul 08; 333(6039):186.
Score: 0.026
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In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A. 2011 Feb 22; 108(8):3288-93.
Score: 0.025
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Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011 Feb 01; 108(5):2142-7.
Score: 0.025
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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9.
Score: 0.025
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Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 08; 6(7):e1001021.
Score: 0.024
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Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52):22462-7.
Score: 0.023
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Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science. 2009 Dec 04; 326(5958):1424-7.
Score: 0.023
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Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 2009 Nov 12; 64(3):341-54.
Score: 0.023
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Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei. J Neurosci. 2009 Sep 09; 29(36):11123-33.
Score: 0.023
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Merkel cells are essential for light-touch responses. Science. 2009 Jun 19; 324(5934):1580-2.
Score: 0.022
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Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42.
Score: 0.022
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The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24; 106(12):4577-8.
Score: 0.022
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Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Dev Biol. 2009 Mar 15; 327(2):339-51.
Score: 0.022
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Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008 Sep 25; 59(6):947-58.
Score: 0.021
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miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci. 2008 Oct; 11(10):1137-9.
Score: 0.021
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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92.
Score: 0.021
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MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9.
Score: 0.021
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Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008 Apr 10; 452(7188):713-8.
Score: 0.021
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The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008 Jan 29; 105(4):1291-6.
Score: 0.020
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.020
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The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A. 2007 Sep 25; 104(39):15382-7.
Score: 0.020
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Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182.
Score: 0.019
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Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 2007 Jun; 132(7):2478-88.
Score: 0.019
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Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar; 39(3):373-9.
Score: 0.019
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ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006 Dec 29; 127(7):1335-47.
Score: 0.019
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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72.
Score: 0.019
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Huntingtin's critical cleavage. Nat Neurosci. 2006 Sep; 9(9):1088-9.
Score: 0.019
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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27.
Score: 0.018
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SILencing misbehaving proteins. Nat Genet. 2005 Dec; 37(12):1302-3.
Score: 0.018
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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17551-8.
Score: 0.017
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Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev. 2005 Oct 15; 19(20):2412-7.
Score: 0.017
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Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 2005 Oct 06; 48(1):31-43.
Score: 0.017
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MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40.
Score: 0.017
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The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005 Aug 26; 122(4):633-44.
Score: 0.017
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Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet. 2005 Mar 01; 14(5):679-91.
Score: 0.017
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Identification of an early subset of cerebellar nuclei neurons in mice. Elife. 2024 Dec 16; 13.
Score: 0.016
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Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15; 14(2):205-20.
Score: 0.016
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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
Score: 0.016
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Generation and characterization of LANP/pp32 null mice. Mol Cell Biol. 2004 Apr; 24(8):3140-9.
Score: 0.016
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Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. JCI Insight. 2024 03 21; 9(9).
Score: 0.016
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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20.
Score: 0.016
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Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1. Neuron. 2024 02 07; 112(3):362-383.e15.
Score: 0.015
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Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30; 425(6961):907-8.
Score: 0.015
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Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet. 2003 Nov 01; 12(21):2789-95.
Score: 0.015
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Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. J Biol Chem. 2003 Sep 05; 278(36):34691-9.
Score: 0.015
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Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Mol Cell Neurosci. 2003 May; 23(1):1-12.
Score: 0.015
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Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307.
Score: 0.015
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SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 06; 37(3):383-401.
Score: 0.014
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Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. Neuron. 2023 02 15; 111(4):493-507.e6.
Score: 0.014
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Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts. Curr Biol. 2002 Sep 17; 12(18):1611-6.
Score: 0.014
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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
Score: 0.014
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Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. Gastroenterology. 2002 Jul; 123(1):345-51.
Score: 0.014
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A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13; 34(6):905-19.
Score: 0.014
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The role of chaperones in polyglutamine disease. Trends Mol Med. 2002 May; 8(5):232-6.
Score: 0.014
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Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
Score: 0.013
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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15; 11(2):115-24.
Score: 0.013
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Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science. 2001 Dec 07; 294(5549):2155-8.
Score: 0.013
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Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001 Dec; 8(6):974-81.
Score: 0.013
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Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons. Elife. 2021 09 20; 10.
Score: 0.013
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Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jul-Aug; 8(4).
Score: 0.013
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Genetic regulation of cerebellar development. Nat Rev Neurosci. 2001 Jul; 2(7):484-91.
Score: 0.013
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Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001 Jul 01; 10(14):1511-8.
Score: 0.013
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Proprioceptor pathway development is dependent on Math1. Neuron. 2001 May; 30(2):411-22.
Score: 0.013
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Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jan-Feb; 8(1).
Score: 0.013
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Spinocerebellar ataxias. Neurobiol Dis. 2000 Oct; 7(5):523-7.
Score: 0.012
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PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization. Nucleic Acids Res. 2020 07 09; 48(12):e69.
Score: 0.012
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Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715.
Score: 0.012
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Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22; 9(5):779-85.
Score: 0.012
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Functional conservation of atonal and Math1 in the CNS and PNS. Development. 2000 Mar; 127(5):1039-48.
Score: 0.012
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Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 01; 9(4):477-88.
Score: 0.012
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Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9.
Score: 0.012
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Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors. Neuron. 2020 04 08; 106(1):37-65.e5.
Score: 0.012
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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000 Feb; 3(2):157-63.
Score: 0.012
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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470.
Score: 0.012
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Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics. 2000 Jan 01; 63(1):97-107.
Score: 0.012
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Insights from mouse models into the molecular basis of neurodegeneration. Annu Rev Physiol. 2000; 62:779-802.
Score: 0.012
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Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999 Dec; 24(4):879-92.
Score: 0.012
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Doublecortin-like Kinase 1 Regulates a-Synuclein Levels and Toxicity. J Neurosci. 2020 01 08; 40(2):459-477.
Score: 0.012
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Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 1999 Nov; 24(3):499-502.
Score: 0.012
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Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro. 2019 Nov/Dec; 6(6).
Score: 0.012
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Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 2019 08 22; 178(5):1159-1175.e17.
Score: 0.011
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Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29; 354(1386):1079-81.
Score: 0.011
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Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Hum Mol Genet. 2019 06 15; 28(12):2014-2029.
Score: 0.011
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Math1: an essential gene for the generation of inner ear hair cells. Science. 1999 Jun 11; 284(5421):1837-41.
Score: 0.011
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Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. JCI Insight. 2018 11 02; 3(21).
Score: 0.011
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A Druggable Genome Screen Identifies Modifiers of a-Synuclein Levels via a Tiered Cross-Species Validation Approach. J Neurosci. 2018 10 24; 38(43):9286-9301.
Score: 0.011
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Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nat Commun. 2018 08 13; 9(1):3225.
Score: 0.011
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Impaired spatial memory codes in a mouse model of Rett syndrome. Elife. 2018 07 20; 7.
Score: 0.011
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Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61.
Score: 0.011
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Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet. 1998 Jun; 19(2):148-54.
Score: 0.010
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Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiol Dis. 2018 08; 116:93-105.
Score: 0.010
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ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018 03 21; 97(6):1235-1243.e5.
Score: 0.010
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Math1 is essential for genesis of cerebellar granule neurons. Nature. 1997 Nov 13; 390(6656):169-72.
Score: 0.010
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The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997 Oct 30; 389(6654):974-8.
Score: 0.010
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The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 1997 Jul; 7(3):927-42.
Score: 0.010
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49(4):527-536.
Score: 0.010
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An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways. Mol Cell Proteomics. 2017 04; 16(4):581-593.
Score: 0.010
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The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. PLoS One. 2016; 11(12):e0166703.
Score: 0.009
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The expanding world of ataxins. Nat Genet. 1996 Nov; 14(3):237-8.
Score: 0.009
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Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet. 2004 Oct 15; 13(20):2535-43.
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Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse. J Neurosci. 2002 Sep 15; 22(18):8110-6.
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Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. J Neurophysiol. 2001 Apr; 85(4):1750-60.
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Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol. 2001 Feb; 21(3):811-3.
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Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum Mol Genet. 2000 Sep 22; 9(15):2305-12.
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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998 Oct 02; 95(1):41-53.
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Increased trinucleotide repeat instability with advanced maternal age. Hum Mol Genet. 1997 Nov; 6(12):2135-9.
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Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 1997 Oct 01; 17(19):7385-95.
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Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet. 1997 Apr; 6(4):513-8.
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Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet. 1996 Jan; 5(1):33-40.
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Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. Genomics. 1995 Oct 10; 29(3):812-3.
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SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995 Sep 22; 82(6):937-48.
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Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels. Cytogenet Cell Genet. 1994; 65(1-2):86-91.
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Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 1992 Apr; 12(4):801-6.
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Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6. Genomics. 1992 Mar; 12(3):542-8.
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Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics. 1989 Jul; 5(1):139-43.
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