Mice with Catalytically Inactive Cathepsin A Display Neurobehavioral Alterations von Calhan, O. Y., Seyrantepe, V.

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Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay–Sachs mouse models von Timur, Z.K., Akyildiz Demir, S., Marsching, C., Sandhoff, R., Seyrantepe, V.

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Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway von Bifsha, P, Landry, K, Ashmarina, L, Durand, S, Seyrantepe, V, Trudel, S, Quiniou, C, Chemtob, S, Xu, Y, Gravel, R A, Sladek, R, Pshezhetsky, A V

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Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature von Simsek, E, Simsek, T, TekgüT, S, Hosal, S, Seyrantepe, V, Aktan, G

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Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population von Dogulu, C F, Kansu, T, Seyrantepe, V, Ozguc, M, Topaloglu, H, Johns, D R

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Intracellular Distribution of Lysosomal Sialidase Is Controlled by the Internalization Signal in Its Cytoplasmic Tail von Lukong, Kiven E., Seyrantepe, Volkan, Landry, Karine, Trudel, Stéphanie, Ahmad, Ali, Gahl, William A., Lefrancois, Stéphane, Morales, Carlos R., Pshezhetsky, Alexey V.

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Proteome Analysis and Functional Expression Identify Mortalin as an Antiapoptotic Gene Induced by Elevation of [Na+]i/[K+]i Ratio in Cultured Vascular Smooth Muscle Cells von Taurin, Sebastien, Seyrantepe, Volkan, Orlov, Sergei N, Tremblay, Tammy-Lynn, Thibault, Pierre, Bennett, Martin R, Hamet, Pavel, Pshezhetsky, Alexey V

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) von Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.

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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in br... von Seyrantepe, V, Ozguc, M, Coskun, T, Ozalp, I, Reichardt, J K

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Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy von Gücüyener, K., Seyrantepe, V., Topaloğlu, H., Özgüç, M.

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Mutational analysis of Turkish galactosaemia patients von Coskun, T., Erkul, E., Seyrantepe, V., Özgüç, M., Tokatli, A., Özalp, İ

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Diagnosis of Quantitative Mitochondrial DNA Defects by Rapidly Prepared Whole Mitochondrial DNA Probe von Seyrantepe, Volkan, Topaloglu, Haluk

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Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome von Seyrantepe, Volkan, Topaloğlu, Haluk, Şimşek, Enver, Özgüç, Meral, Yordam, Nurşen

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Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers von Seyrantepe, Volkan, Kale, Gülsev, Topaloǧlu, Haluk, Alikasifoǧlu, Ayfer, Özgüc, Meral

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The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples von CALI, F, DIANZANI, I, BOSCO, P, DE LEO, G, PIAZZA, A, ROMANO, V, DESVIAT, L. R, PEREZ, B, UGARTE, M, OZGUC, M, SEYRANTEPE, V, SHILOH, Y, GIANNATTASIO, S, CARDUCCI, C

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mtDNA nt3243 Mutation, External Ophthalmoplegia, and Hypogonadism in an Adolescent Girl von Topaloğlu, Haluk, Seyrantepe, Volkan, Kandemir, Nurgün, Akçören, Zuhal, Özgüç, Meral

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Positive Regulation of Insulin Signaling by Neuraminidase 1 von DRIDI, Larbi, SEYRANTEPE, Volkan, ISSAD, Tarik, HINEK, Alexander, PSHEZHETSKY, Alexey V, FOUGERAT, Anne, XUEFANG PAN, BONNEIL, Eric, THIBAULT, Pierre, MOREAU, Allain, MITCHELL, Grant A, HEVEKER, Nikolaus, CAIRO, Christopher W

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Monocyte Differentiation Up-regulates the Expression of the Lysosomal Sialidase, Neu1, and Triggers Its Targeting to the Plasma Membrane via Major Histocompatibility Complex Class... von Liang, Feng, Seyrantepe, Volkan, Landry, Karine, Ahmad, Rasheed, Ahmad, Ali, Stamatos, Nicholas M., Pshezhetsky, Alexey V.

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Neu1 desialylation of sialyl α-2,3-linked β-galactosyl residues of TOLL-like receptor 4 is essential for receptor activation and cellular signaling von Amith, Schammim Ray, Jayanth, Preethi, Franchuk, Susan, Finlay, Trisha, Seyrantepe, Volkan, Beyaert, Rudi, Pshezhetsky, Alexey V., Szewczuk, Myron R.

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Neu4, a Novel Human Lysosomal Lumen Sialidase, Confers Normal Phenotype to Sialidosis and Galactosialidosis Cells von Seyrantepe, Volkan, Landry, Karine, Trudel, Stéphanie, Hassan, Jacob A, Morales, Carlos R, Pshezhetsky, Alexey V

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