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Literature citations Results

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.

Lee J.M., Ivanova E.V., Seong I.S., Cashorali T., Kohane I., Gusella J.F., MacDonald M.E.

PLoS Genet. 3:e135-e135(2007) · Mapped (27)

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim H.G., Kim H.T., Leach N.T., Lan F., Ullmann R., Silahtaroglu A., Kurth I., Nowka A., Seong I.S., Shen Y. et al.

Am. J. Hum. Genet. 91:56-72(2012) · Mapped (26)

Transcriptional regulatory networks underlying gene expression changes in Huntington's disease.

Ament S.A., Pearl J.R., Cantle J.P., Bragg R.M., Skene P.J., Coffey S.R., Bergey D.E., Wheeler V.C., MacDonald M.E., Baliga N.S. et al.

Mol. Syst. Biol. 14:e7435-e7435(2018) · Mapped (7)

The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin.

Rangone H., Poizat G., Troncoso J., Ross C.A., MacDonald M.E., Saudou F., Humbert S.

Eur. J. Neurosci. 19:273-279(2004) · Mapped (9)

The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia.

Namura S., Hirt L., Wheeler V.C., McGinnis K.M., Hilditch-Maguire P., Moskowitz M.A., MacDonald M.E., Persichetti F.

Neurobiol. Dis. 11:147-154(2002) · Mapped (2)

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.

Auerbach W., Hurlbert M.S., Hilditch-Maguire P., Wadghiri Y.Z., Wheeler V.C., Cohen S.I., Joyner A.L., MacDonald M.E., Turnbull D.H.

Hum. Mol. Genet. 10:2515-2523(2001) · Mapped (2)

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.

Dietz K.N., Di Stefano L., Maher R.C., Zhu H., Macdonald M.E., Gusella J.F., Walker J.A.

Hum. Mol. Genet. 24:330-345(2015) · Mapped (253)

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.

Pontikis C.C., Cotman S.L., MacDonald M.E., Cooper J.D.

Neurobiol. Dis. 20:823-836(2005) · Mapped (10)

TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.

Brummelkamp T.R., Kortlever R.M., Lingbeek M., Trettel F., MacDonald M.E., van Lohuizen M., Bernards R.

J. Biol. Chem. 277:6567-6572(2002) · Mapped (13)

Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.

MacDonald M.E., Duyao M., Calzonetti T., Auerbach A., Ryan A., Barnes G., White J.K., Auerbach W., Vonsattel J.P., Gusella J.F. et al.

Cold Spring Harb. Symp. Quant. Biol. 61:627-638(1996) · Mapped (2)

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

Lee J.H., Lee J.M., Ramos E.M., Gillis T., Mysore J.S., Kishikawa S., Hadzi T., Hendricks A.E., Hayden M.R., Morrison P.J. et al.

Biochem. Biophys. Res. Commun. 424:404-408(2012) · Mapped (10)

Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene.

Cheng S.V., Martin G.R., Nadeau J.H., Haines J.L., Bucan M., Kozak C.A., MacDonald M.E., Lockyer J.L., Ledley F.D., Woo S.L.

Genomics 4:419-426(1989) · Mapped (15)

Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.

Grosson C.L., MacDonald M.E., Duyao M.P., Ambrose C.M., Roffler-Tarlov S., Gusella J.F.

Mamm. Genome 5:424-428(1994) · Mapped (79)

Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.

Ambrose C.M., Duyao M.P., Barnes G., Bates G.P., Lin C.S., Srinidhi J., Baxendale S., Hummerich H., Lehrach H., Altherr M. et al.

Somat. Cell Mol. Genet. 20:27-38(1994) · UniProtKB (1)

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

Reis S.A., Thompson M.N., Lee J.M., Fossale E., Kim H.H., Liao J.K., Moskowitz M.A., Shaw S.Y., Dong L., Haggarty S.J. et al.

Hum. Mol. Genet. 20:2344-2355(2011) · Mapped (2)

Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway.

Ruan Q., Lesort M., MacDonald M.E., Johnson G.V.

Hum. Mol. Genet. 13:669-681(2004) · Mapped (2)

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

Gines S., Seong I.S., Fossale E., Ivanova E., Trettel F., Gusella J.F., Wheeler V.C., Persichetti F., MacDonald M.E.

Hum. Mol. Genet. 12:497-508(2003) · Mapped (2)

Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.

Richfield E.K., Vonsattel J.P., MacDonald M.E., Sun Z., Deng Y.P., Reiner A.

Mov. Disord. 17:327-332(2002) · Mapped (2)

Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease.

Carnemolla A., Fossale E., Agostoni E., Michelazzi S., Calligaris R., De Maso L., Del Sal G., MacDonald M.E., Persichetti F.

J. Biol. Chem. 284:18167-18173(2009) · Mapped (10)

Rosuvastatin Reduces Aortic Sinus and Coronary Artery Atherosclerosis in SR-B1 (Scavenger Receptor Class B Type 1)/ApoE (Apolipoprotein E) Double Knockout Mice Independently of Plasma Cholesterol Lowering.

Yu P., Xiong T., Tenedero C.B., Lebeau P., Ni R., MacDonald M.E., Gross P.L., Austin R.C., Trigatti B.L.

Arterioscler. Thromb. Vasc. Biol. 38:26-39(2018) · Mapped (17)

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

Ramos E.M., Gillis T., Mysore J.S., Lee J.M., Alonso I., Gusella J.F., Smoller J.W., Sklar P., MacDonald M.E., Perlis R.H.

Bipolar Disord 17:403-408(2015) · Mapped (25)

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.

Ramos E.M., Keagle P., Gillis T., Lowe P., Mysore J.S., Leclerc A.L., Ratti A., Ticozzi N., Gellera C., Gusella J.F. et al.

Amyotroph Lateral Scler 13:265-269(2012) · Mapped (25)

Population stratification may bias analysis of PGC-1alpha as a modifier of age at Huntington disease motor onset.

Ramos E.M., Latourelle J.C., Lee J.H., Gillis T., Mysore J.S., Squitieri F., Di Pardo A., Di Donato S., Hayden M.R., Morrison P.J. et al.

Hum. Genet. 131:1833-1840(2012) · Mapped (3)

Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron.

Faber P.W., Alter J.R., MacDonald M.E., Hart A.C.

Proc. Natl. Acad. Sci. U.S.A. 96:179-184(1999) · Mapped (2)

Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons.

Jackson G.R., Salecker I., Dong X., Yao X., Arnheim N., Faber P.W., MacDonald M.E., Zipursky S.L.

Neuron 21:633-642(1998) · Mapped (2)

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