Lineage-specific biology revealed by a finished genome assembly of the mouse.Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L.[...], Ponting C.P.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]StrainC57BL/6JCategoriesSequencesSourceUniProtKB unreviewed (TrEMBL)PubMedEurope PMCPLoS Biol. 7:E1000112-E1000112 (2009)Cited in99+99+
A tissue-specific atlas of mouse protein phosphorylation and expression.Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R., Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.View abstractCited forIDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]CategoriesSequencesSourceUniProtKB unreviewed (TrEMBL)PubMedEurope PMCCell 143:1174-1189 (2010)Cited in99+99+Mapped to6
Modernizing reference genome assemblies.Church D.M., Schneider V.A., Graves T., Auger K., Cunningham F., Bouk N., Chen H.C., Agarwala R., McLaren W.M.[...], Hubbard T.Cited forNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]StrainC57BL/6JCategoriesSequencesSourceUniProtKB unreviewed (TrEMBL)PubMedEurope PMCPLoS Biol 9:e1001091-e1001091 (2011)Cited in99+
No title available.EnsemblCited forIDENTIFICATIONStrainC57BL/6JSourceUniProtKB unreviewed (TrEMBL)Submission Submitted to UniProtKB (JUN-2024)Cited in99+
Genetic determinants of micronucleus formation in vivo.Adams D.J., Barlas B., McIntyre R.E., Salguero I., van der Weyden L., Barros A., Vicente J.R., Karimpour N., Haider A.[...], White J.K.View abstractSourceMGI: 1354951PubMedEurope PMCNature 627:130-136 (2024)Mapped to99+
Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.Huang L., Kondo Y., Cao L., Han J., Li T., Zuo B., Yang F., Li Y., Ma Z.[...], Xia L.View abstractSourceMGI: 1354951PubMedEurope PMCBlood Adv. 8:991-1001 (2024)Cited in2Mapped to17
Hepatic sialic acid synthesis modulates glucose homeostasis in both liver and skeletal muscle.Peng J., Yu L., Huang L., Paschoal V.A., Chu H., de Souza C.O., Varre J.V., Oh D.Y., Kohler J.J.[...], Mineo C.View abstractCategoriesSubcellular LocationSourceMGI: 1354951PubMedEurope PMCMol Metab 78:101812-101812 (2023)Mapped to14
<i>In vivo</i> and <i>in vitro</i> genome editing to explore GNE functions.Ilouz N., Harazi A., Guttman M., Daya A., Ruppo S., Yakovlev L., Mitrani-Rosenbaum S.View abstractCategoriesFunctionSourceMGI: 1354951PubMedEurope PMCFront Genome Ed 4:930110-930110 (2022)Mapped to12
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.Bedogni F., Hevner R.F.View abstractCategoriesFunction, SequencesSourceMGI: 1354951PubMedEurope PMCFront Mol Neurosci 14:686034-686034 (2021)Mapped to99+
Reduced sialylation triggers homeostatic synapse and neuronal loss in middle-aged mice.Klaus C., Hansen J.N., Ginolhac A., Gerard D., Gnanapragassam V.S., Horstkorte R., Rossdam C., Buettner F.F.R., Sauter T.[...], Linnartz-Gerlach B.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCNeurobiol Aging 88:91-107 (2020)Mapped to18
Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.Benyamini H., Kling Y., Yakovlev L., Becker Cohen M., Nevo Y., Elgavish S., Harazi A., Argov Z., Sela I., Mitrani-Rosenbaum S.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCJ Neuromuscul Dis 7:119-136 (2020)Mapped to17
Galactosyl carbohydrate residues on hematopoietic stem/progenitor cells are essential for homing and engraftment to the bone marrow.Takagaki S., Yamashita R., Hashimoto N., Sugihara K., Kanari K., Tabata K., Nishie T., Oka S., Miyanishi M.[...], Asano M.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCSci Rep 9:7133-7133 (2019)Mapped to19
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.Cho A., Christine M., Malicdan V., Miyakawa M., Nonaka I., Nishino I., Noguchi S.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCHum Mol Genet 26:3081-3093 (2017)Mapped to12
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.Chan Y.M., Lee P., Jungles S., Morris G., Cadaoas J., Skrinar A., Vellard M., Kakkis E.View abstractCategoriesSequences, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCPLoS One 12:e0173261-e0173261 (2017)Mapped to12
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.Kreuzmann D., Horstkorte R., Kohla G., Kannicht C., Bennmann D., Thate A., Bork K.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCChembiochem 18:1188-1193 (2017)Mapped to24
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.Yonekawa T., Malicdan M.C., Cho A., Hayashi Y.K., Nonaka I., Mine T., Yamamoto T., Nishino I., Noguchi S.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCBrain 137:2670-2679 (2014)Mapped to12
Sialylation and muscle performance: sialic acid is a marker of muscle ageing.Hanisch F., Weidemann W., Grossmann M., Joshi P.R., Holzhausen H.J., Stoltenburg G., Weis J., Zierz S., Horstkorte R.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCPLoS One 8:e80520-e80520 (2013)Mapped to12
Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.Yardeni T., Jacobs K., Niethamer T.K., Ciccone C., Anikster Y., Kurochkina N., Gahl W.A., Huizing M.View abstractCategoriesSequences, ExpressionSourceMGI: 1354951PubMedEurope PMCGlycoconj J 30:609-618 (2013)Mapped to12
Variable phenotypes of knockin mice carrying the M712T Gne mutation.Sela I., Yakovlev L., Becker Cohen M., Elbaz M., Yanay N., Ben Shlomo U., Yotvat H., Fellig Y., Argov Z., Mitrani-Rosenbaum S.View abstractCategoriesPhenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCNeuromolecular Med 15:180-191 (2013)Mapped to17
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.Niethamer T.K., Yardeni T., Leoyklang P., Ciccone C., Astiz-Martinez A., Jacobs K., Dorward H.M., Zerfas P.M., Gahl W.A., Huizing M.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCMol Genet Metab 107:748-755 (2012)Mapped to12
The Gne M712T mouse as a model for human glomerulopathy.Kakani S., Yardeni T., Poling J., Ciccone C., Niethamer T., Klootwijk E.D., Manoli I., Darvish D., Hoogstraten-Miller S.[...], Huizing M.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCAm J Pathol 180:1431-1440 (2012)Mapped to28
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.Ito M., Sugihara K., Asaka T., Toyama T., Yoshihara T., Furuichi K., Wada T., Asano M.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCPLoS One 7:e29873-e29873 (2012)Mapped to12
GNE is involved in the early development of skeletal and cardiac muscle.Milman Krentsis I., Sela I., Eiges R., Blanchard V., Berger M., Becker Cohen M., Mitrani-Rosenbaum S.View abstractCategoriesSequencesSourceMGI: 1354951PubMedEurope PMCPLoS One 6:e21389-e21389 (2011)Mapped to12
A conditional knockout resource for the genome-wide study of mouse gene function.Skarnes W.C., Rosen B., West A.P., Koutsourakis M., Bushell W., Iyer V., Mujica A.O., Thomas M., Harrow J.[...], Bradley A.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 1354951PubMedEurope PMCNature 474:337-342 (2011)Mapped to99+
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.Diez-Roux G., Banfi S., Sultan M., Geffers L., Anand S., Rozado D., Magen A., Canidio E., Pagani M.[...], Ballabio A.View abstractCategoriesExpressionSourceMGI: 1354951PubMedEurope PMCPLoS Biol 9:e1000582-e1000582 (2011)Mapped to99+