22
results
for author:"Minassian B.A."
in Literature Citations
| Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS. Clapcote S.J., Duffy S., Xie G., Kirshenbaum G., Bechard A.R., Rodacker Schack V., Petersen J., Sinai L., Saab B.J., Lerch J.P. et al. Proc. Natl. Acad. Sci. U.S.A. 106:14085-14090(2009) · Mapped (9) |
| VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Ramachandran N., Munteanu I., Wang P., Aubourg P., Rilstone J.J., Israelian N., Naranian T., Paroutis P., Guo R., Ren Z.-P. et al. |
| 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. |
| Abnormal metabolism of glycogen phosphate as a cause for Lafora disease. Tagliabracci V.S., Girard J.M., Segvich D., Meyer C., Turnbull J., Zhao X., Minassian B.A., Depaoli-Roach A.A., Roach P.J. J. Biol. Chem. 283:33816-33825(2008) · Mapped (1) |
| Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms. Liu R., Wang L., Chen C., Liu Y., Zhou P., Wang Y., Wang X., Turnbull J., Minassian B.A., Liu Y. et al. Mol. Cell. Biol. 28:7236-7244(2008) · Mapped (4) |
| Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Tagliabracci V.S., Turnbull J., Wang W., Girard J.M., Zhao X., Skurat A.V., Delgado-Escueta A.V., Minassian B.A., Depaoli-Roach A.A., Roach P.J. Proc. Natl. Acad. Sci. U.S.A. 104:19262-19266(2007) · Mapped (1) |
| The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Siintola E., Topcu M., Aula N., Lohi H., Minassian B.A., Paterson A.D., Liu X.-Q., Wilson C., Lahtinen U., Anttonen A.-K. et al. Am. J. Hum. Genet. 81:136-146(2007) · UniProtKB (1) · Mapped (4) |
| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. Petel-Galil Y., Ben-Zeev B., Greenbaum I., Vecsler M., Goldman B., Lohi H., Minassian B.A., Gak E. J. Med. Genet. 44:e56-e56(2007) · Mapped (5) |
| Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Harvey C.G., Menon S.D., Stachowiak B., Noor A., Proctor A., Mensah A.K., Mnatzakanian G.N., Alfred S.E., Guo R., Scherer S.W. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B:355-360(2007) · Mapped (5) |
| Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. Petel-Galil Y., Benteer B., Galil Y.P., Zeev B.B., Greenbaum I., Vecsler M., Goldman B., Lohi H., Minassian B.A., Gak E. J. Med. Genet. 43:e56-e56(2006) · Mapped (5) |
| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Lohi H., Ianzano L., Zhao X.C., Chan E.M., Turnbull J., Scherer S.W., Ackerley C.A., Minassian B.A. Hum. Mol. Genet. 14:2727-2736(2005) · Mapped (6) |
| Expanded repeat in canine epilepsy. Lohi H., Young E.J., Fitzmaurice S.N., Rusbridge C., Chan E.M., Vervoort M., Turnbull J., Zhao X.C., Ianzano L., Paterson A.D. et al. Science 307:81-81(2005) · UniProtKB (1) |
| Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Chan E.M., Ackerley C.A., Lohi H., Ianzano L., Cortez M.A., Shannon P., Scherer S.W., Minassian B.A. Hum. Mol. Genet. 13:1117-1129(2004) · UniProtKB (1) |
| A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Mnatzakanian G.N., Lohi H., Munteanu I., Alfred S.E., Yamada T., MacLeod P.J.M., Jones J.R., Scherer S.W., Schanen N.C., Friez M.J. et al. |
| Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Ianzano L., Young E.J., Zhao X.C., Chan E.M., Rodriguez M.T., Torrado M.V., Scherer S.W., Minassian B.A. |
| Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan E.M., Young E.J., Ianzano L., Munteanu I., Zhao X., Christopoulos C.C., Avanzini G., Elia M., Ackerley C.A., Jovic N.J. et al. Nat. Genet. 35:125-127(2003) · UniProtKB (3) |
| Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product. Ianzano L., Zhao X.C., Minassian B.A., Scherer S.W. |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. Shannon P., Pennacchio L.A., Houseweart M.K., Minassian B.A., Myers R.M. J. Neuropathol. Exp. Neurol. 61:1085-1091(2002) · Mapped (1) |
| Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase. Minassian B.A., Andrade D.M., Ianzano L., Young E.J., Chan E., Ackerley C.A., Scherer S.W. Ann. Neurol. 49:271-275(2001) · UniProtKB (1) |
| Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Minassian B.A., Lee J.R., Herbrick J.-A., Huizenga J., Soder S., Mungall A.J., Dunham I., Gardner R., Fong C.G., Carpenter S. et al. Nat. Genet. 20:171-174(1998) · UniProtKB (1) |
| Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. DeLorey T.M., Handforth A., Anagnostaras S.G., Homanics G.E., Minassian B.A., Asatourian A., Fanselow M.S., Delgado-Escueta A., Ellison G.D., Olsen R.W. J. Neurosci. 18:8505-8514(1998) · Mapped (2) |
