1 - 25 of 40 results for author:"Mole S.E." in Literature citations
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| Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Smith K.R., Damiano J., Franceschetti S., Carpenter S., Canafoglia L., Morbin M., Rossi G., Pareyson D., Mole S.E., Staropoli J.F. et al. Am. J. Hum. Genet. 90:1102-1107(2012) · UniProtKB (1) · Mapped (15) |
| Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Bras J., Verloes A., Schneider S.A., Mole S.E., Guerreiro R.J. Hum. Mol. Genet. 21:2646-2650(2012) · Mapped (5) |
| Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Kousi M., Lehesjoki A.E., Mole S.E. Hum. Mutat. 33:42-63(2012) · UniProtKB (8) |
| Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Noskova L., Stranecky V., Hartmannova H., Pristoupilova A., Baresova V., Ivanek R., Hulkova H., Jahnova H., van der Zee J., Staropoli J.F. et al. Am. J. Hum. Genet. 89:241-252(2011) · UniProtKB (1) · Mapped (2) |
| Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Arsov T., Smith K.R., Damiano J., Franceschetti S., Canafoglia L., Bromhead C.J., Andermann E., Vears D.F., Cossette P., Rajagopalan S. et al. Am. J. Hum. Genet. 88:566-573(2011) · UniProtKB (1) · Mapped (4) |
| CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Xin W., Mullen T.E., Kiely R., Min J., Feng X., Cao Y., O'Malley L., Shen Y., Chu-Shore C., Mole S.E. et al. Neurology 74:565-571(2010) · Mapped (3) |
| Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. Kurze A.K., Galliciotti G., Heine C., Mole S.E., Quitsch A., Braulke T. Hum. Mutat. 31:E1163-74(2010) · Mapped (5) |
| Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Lebrun A.-H., Storch S., Rueschendorf F., Schmiedt M.-L., Kyttaelae A., Mole S.E., Kitzmueller C., Saar K., Mewasingh L.D., Boda V. et al. |
| S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. Codlin S., Mole S.E. J. Cell. Sci. 122:1163-1173(2009) · Mapped (25) |
| Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M. et al. |
| Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Aiello C., Terracciano A., Simonati A., Discepoli G., Cannelli N., Claps D., Crow Y.J., Bianchi M., Kitzmuller C., Longo D. et al. |
| Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Cannelli N., Garavaglia B., Simonati A., Aiello C., Barzaghi C., Pezzini F., Cilio M.R., Biancheri R., Morbin M., Dalla Bernardina B. et al. Biochem. Biophys. Res. Commun. 379:892-897(2009) · Mapped (5) |
| btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe. Codlin S., Haines R.L., Mole S.E. Traffic 9:936-950(2008) · Mapped (1) |
| A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Kitzmuller C., Haines R.L., Codlin S., Cutler D.F., Mole S.E. Hum. Mol. Genet. 17:303-312(2008) · UniProtKB (2) · Mapped (23) |
| Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Heine C., Quitsch A., Storch S., Martin Y., Lonka L., Lehesjoki A.E., Mole S.E., Braulke T. Mol. Membr. Biol. 24:74-87(2007) · Mapped (5) |
| Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Ramadan H., Al-Din A.S., Ismail A., Balen F., Varma A., Twomey A., Watts R., Jackson M., Anderson G., Green E. et al. Neurology 68:387-388(2007) · Mapped (5) |
| Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems. Phillips S.N., Muzaffar N., Codlin S., Korey C.A., Taschner P.E., de Voer G., Mole S.E., Pearce D.A. Biochim. Biophys. Acta 1762:906-919(2006) · Mapped (7) |
| Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Poet M., Kornak U., Schweizer M., Zdebik A.A., Scheel O., Hoelter S., Wurst W., Schmitt A., Fuhrmann J.C., Planells-Cases R. et al. Proc. Natl. Acad. Sci. U.S.A. 103:13854-13859(2006) · UniProtKB (1) · Mapped (5) |
| Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. Tang C.H., Lee J.W., Galvez M.G., Robillard L., Mole S.E., Chapman H.A. Mol. Cell. Biol. 26:2309-2316(2006) · Mapped (4) |
| btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. Gachet Y., Codlin S., Hyams J.S., Mole S.E. J. Cell Sci. 118:5525-5536(2005) · UniProtKB (1) · Mapped (25) |
| A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Pineda-Trujillo N., Cornejo W., Carrizosa J., Wheeler R.B., Munera S., Valencia A., Agudelo-Arango J., Cogollo A., Anderson G., Bedoya G. et al. |
| Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1. Porter M.Y., Turmaine M., Mole S.E. J. Neurosci. Res. 79:836-848(2005) · UniProtKB (1) |
| CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Mole S.E., Michaux G., Codlin S., Wheeler R.B., Sharp J.D., Cutler D.F. Exp. Cell Res. 298:399-406(2004) · UniProtKB (1) · Mapped (4) |
| Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Ranta S., Topcu M., Tegelberg S., Tan H., Uestuebuetuen A., Saatci I., Dufke A., Enders H., Pohl K., Alembik Y. et al. Hum. Mutat. 23:300-305(2004) · UniProtKB (1) |
| Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Sharp J.D., Wheeler R.B., Parker K.A., Gardiner R.M., Williams R.E., Mole S.E. |