Gene Review:
SGCE - sarcoglycan, epsilon
Homo sapiens
Synonyms:
DYT11, ESG, Epsilon-SG, Epsilon-sarcoglycan, UNQ433/PRO840
Tezenas du Montcel,
Clot,
Vidailhet,
Roze,
Damier,
Jedynak,
Camuzat,
Lagueny,
Vercueil,
Doummar,
Guyant-Maréchal,
Houeto,
Ponsot,
Thobois,
Cournelle,
Durr,
Durif,
Echenne,
Hannequin,
Tranchant,
Brice,
Doheny,
Brin,
Morrison,
Smith,
Walker,
Abbasi,
Müller,
Garrels,
Liu,
De Carvalho Aguiar,
Schilling,
Kramer,
De Leon,
Raymond,
Saunders-Pullman,
Klein,
Bressman,
Schmand,
Tijssen,
Ozelius,
Silverman,
Asmus,
Salih,
Hjermind,
Ostergaard,
Munz,
Kühn,
Dupont,
Kupsch,
Gasser,
Grundmann,
Laubis-Herrmann,
Dressler,
Vollmer-Haase,
Bauer,
Stuhrmann,
Schulte,
Schöls,
Topka,
Riess,
- Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Müller-Myhsok, B., Riedel, L., Bauer, M., Müller, T., Castro, M., Meitinger, T., Strom, T.M., Gasser, T. Nat. Genet. (2001)
- Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Müller, B., Hedrich, K., Kock, N., Dragasevic, N., Svetel, M., Garrels, J., Landt, O., Nitschke, M., Pramstaller, P.P., Reik, W., Schwinger, E., Sperner, J., Ozelius, L., Kostic, V., Klein, C. Am. J. Hum. Genet. (2002)
- Optic disc tomography and perimetry in controls, glaucoma suspects, and early and established glaucomas. DE LA Rosa, M.G., Gonzalez-Hernandez, M., Lozano-Lopez, V., Mendez, M.S., DE LA Vega, R.R. Optometry and vision science : official publication of the American Academy of Optometry (2007)
- Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. de Carvalho Aguiar, P., Fazzari, M., Jankovic, J., Ozelius, L.J. Mov. Disord. (2004)
- SGCE missense mutations that cause myoclonus-dystonia syndrome impair {varepsilon}-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Esapa, C.T., Waite, A., Locke, M., Benson, M.A., Kraus, M., McIlhinney, R.A., Sillitoe, R.V., Beesley, P.W., Blake, D.J. Hum. Mol. Genet. (2007)
- Genetic heterogeneity in ten families with myoclonus-dystonia. Schüle, B., Kock, N., Svetel, M., Dragasevic, N., Hedrich, K., De Carvalho Aguiar, P., Liu, L., Kabakci, K., Garrels, J., Meyer, E.M., Berisavac, I., Schwinger, E., Kramer, P.L., Ozelius, L.J., Klein, C., Kostic, V. J. Neurol. Neurosurg. Psychiatr. (2004)
- Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Grundmann, K., Laubis-Herrmann, U., Dressler, D., Vollmer-Haase, J., Bauer, P., Stuhrmann, M., Schulte, T., Schöls, L., Topka, H., Riess, O. Mov. Disord. (2004)
- Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Asmus, F., Salih, F., Hjermind, L.E., Ostergaard, K., Munz, M., Kühn, A.A., Dupont, E., Kupsch, A., Gasser, T. Ann. Neurol. (2005)
- Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Valente, E.M., Misbahuddin, A., Brancati, F., Placzek, M.R., Garavaglia, B., Salvi, S., Nemeth, A., Shaw-Smith, C., Nardocci, N., Bentivoglio, A.R., Berardelli, A., Eleopra, R., Dallapiccola, B., Warner, T.T. Mov. Disord. (2003)
- Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. Tezenas du Montcel, S., Clot, F., Vidailhet, M., Roze, E., Damier, P., Jedynak, C.P., Camuzat, A., Lagueny, A., Vercueil, L., Doummar, D., Guyant-Maréchal, L., Houeto, J.L., Ponsot, G., Thobois, S., Cournelle, M.A., Durr, A., Durif, F., Echenne, B., Hannequin, D., Tranchant, C., Brice, A. J. Med. Genet. (2006)
- The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Grabowski, M., Zimprich, A., Lorenz-Depiereux, B., Kalscheuer, V., Asmus, F., Gasser, T., Meitinger, T., Strom, T.M. Eur. J. Hum. Genet. (2003)
- Deep brain stimulation in myoclonus-dystonia syndrome. Cif, L., Valente, E.M., Hemm, S., Coubes, C., Vayssiere, N., Serrat, S., Di Giorgio, A., Coubes, P. Mov. Disord. (2004)
- Expression analysis of the SG-SSPN complex in smooth muscle and endothelial cells of human umbilical cord vessels. Ramírez-Sánchez, I., Rosas-Vargas, H., Ceballos-Reyes, G., Salamanca, F., Coral-Vázquez, R.M. J. Vasc. Res. (2005)
- Phenotypic features of myoclonus-dystonia in three kindreds. Doheny, D.O., Brin, M.F., Morrison, C.E., Smith, C.J., Walker, R.H., Abbasi, S., Müller, B., Garrels, J., Liu, L., De Carvalho Aguiar, P., Schilling, K., Kramer, P., De Leon, D., Raymond, D., Saunders-Pullman, R., Klein, C., Bressman, S.B., Schmand, B., Tijssen, M.A., Ozelius, L.J., Silverman, J.M. Neurology (2002)
- A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21. Ono, R., Kobayashi, S., Wagatsuma, H., Aisaka, K., Kohda, T., Kaneko-Ishino, T., Ishino, F. Genomics (2001)
- Expression and function of utrophin associated protein complex in stretched endothelial cells: dissociation and activation of eNOS. Ramirez-Sanchez, I., Ceballos-Reyes, G., Rosas-Vargas, H., Cerecedo-Mercado, D., Zentella-Dehesa, A., Salamanca, F., Coral-Vazquez, R.M. Front. Biosci. (2007)
- Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. DeBerardinis, R.J., Conforto, D., Russell, K., Kaplan, J., Kollros, P.R., Zackai, E.H., Emanuel, B.S. Am. J. Med. Genet. A (2003)