Mouse Stbd1 is N -myristoylated and affects ER-mitochondria association and mitochondrial morphology
Demetriadou, Anthi, Morales-Sanfrutos, Julia, Nearchou, Marianna, Baba, Otto, Kyriacou, Kyriacos, Tate, Edward W, Drousiotou, Anthi, Petrou, Petros P
Published in Journal of cell science (01.03.2017)
Published in Journal of cell science (01.03.2017)
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Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content
Kyriakou, Kalia, Lederer, Carsten W, Kleanthous, Marina, Drousiotou, Anthi, Malekkou, Anna
Published in International journal of molecular sciences (26.02.2020)
Published in International journal of molecular sciences (26.02.2020)
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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P
Published in BMC medical genomics (25.03.2024)
Published in BMC medical genomics (25.03.2024)
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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics
Georgiou, Theodoros, Grafakou, Olga, Malekkou, Anna, Athanasiou, Emilia, Ioannou, Ioannis, Choleva, Vivi, Dionysiou, Maria, Mavrikiou, Gabriella, Demetriadou, Anthi, Anastasiadou, Violetta, Drousiotou, Anthi, Petrou, Petros P.
Published in Molecular genetics and metabolism reports (01.12.2024)
Published in Molecular genetics and metabolism reports (01.12.2024)
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Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
Malekkou, Anna, Samarani, Maura, Drousiotou, Anthi, Votsi, Christina, Sonnino, Sandro, Pantzaris, Marios, Chiricozzi, Elena, Zamba-Papanicolaou, Eleni, Aureli, Massimo, Loberto, Nicoletta, Christodoulou, Kyproula
Published in International journal of molecular sciences (10.10.2018)
Published in International journal of molecular sciences (10.10.2018)
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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H., Ruijter, George J.G., Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Inherited metabolic disorders in Cyprus
Georgiou, Theodoros, Petrou, Petros P., Malekkou, Anna, Ioannou, Ioannis, Gavatha, Marina, Skordis, Nicos, Nicolaidou, Paola, Savvidou, Irini, Athanasiou, Emilia, Ourani, Sofia, Papamichael, Elena, Vogazianos, Marios, Dionysiou, Maria, Mavrikiou, Gabriella, Grafakou, Olga, Tanteles, George A., Anastasiadou, Violetta, Drousiotou, Anthi
Published in Molecular genetics and metabolism reports (01.06.2024)
Published in Molecular genetics and metabolism reports (01.06.2024)
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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Published in Molecular genetics & genomic medicine (01.03.2020)
Published in Molecular genetics & genomic medicine (01.03.2020)
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The "sweet" side of ER-mitochondria contact sites
Demetriadou, Anthi, Drousiotou, Anthi, Petrou, Petros P.
Published in Communicative & integrative biology (04.07.2017)
Published in Communicative & integrative biology (04.07.2017)
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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata
Drousiotou, Anthi, Tanteles, George A., Sismani, Carolina, Krasia, Maria, Christodoulides, Theodoros, Savva, Isavella, Spanou-Aristidou, Elena, Alexandrou, Angelos, Mavrikiou, Gavriella, Georgiou, Theodoros, Anastasiadou, Violetta
Published in Case reports in genetics (01.01.2016)
Published in Case reports in genetics (01.01.2016)
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The Cypriot and Iranian National Mutation Frequency Databases
Kleanthous, Marina, Patsalis, Philippos C., Drousiotou, Anthi, Motazacker, Mehdi, Christodoulou, Kyproula, Cariolou, Marios, Baysal, Erol, Khrizi, Kimia, Moghimi, Babak, Pourfarzad, Farzin, van Baal, Sjozef, Deltas, Constantinos, Najmabadi, Hossein, Patrinos, George P.
Published in Human mutation (01.06.2006)
Published in Human mutation (01.06.2006)
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Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis
Gururaj, Aithala, Sztriha, László, Hertecant, Josef, Johansen, Johan G, Georgiou, Theodoros, Campos, Yvan, Drousiotou, Anthi, d'Azzo, Alessandra
Published in Journal of child neurology (01.01.2005)
Published in Journal of child neurology (01.01.2005)
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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
Batzios, Spyros, Tal, Galit, DiStasio, Andrew T, Peng, Yanyan, Charalambous, Christiana, Nicolaides, Paola, Kamsteeg, Erik-Jan, Korman, Stanley H, Mandel, Hanna, Steinbach, Peter J, Yi, Ling, Fair, Summer R, Hester, Mark E, Drousiotou, Anthi, Kaler, Stephen G
Published in Human molecular genetics (16.12.2022)
Published in Human molecular genetics (16.12.2022)
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Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contact
Kyriakoudi, Styliana, Theodoulou, Andria, Potamiti, Louiza, Schumacher, Fabian, Zachariou, Margarita, Papacharalambous, Revekka, Kleuser, Burkhard, Panayiotidis, Mihalis I., Drousiotou, Anthi, Petrou, Petros P.
Published in Biochimie (01.09.2022)
Published in Biochimie (01.09.2022)
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Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts
Lytridou, Andria A, Demetriadou, Anthi, Christou, Melina, Potamiti, Louiza, Mastroyiannopoulos, Nikolas P, Kyriacou, Kyriacos, Phylactou, Leonidas A, Drousiotou, Anthi, Petrou, Petros P
Published in Journal of cell science (26.10.2020)
Published in Journal of cell science (26.10.2020)
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Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum
Petrou, Petros, Pantzaris, Marios, Dionysiou, Maria, Drousiotou, Anthi, Kyriakides, Theodoros
Published in Muscle & nerve (01.11.2015)
Published in Muscle & nerve (01.11.2015)
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A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia
Lambrianides, Sakis, Nicolaou, Paschalis, Michaelidou, Mikaela, Kakouris, Panos, Votsi, Christina, Petrou, Petros P., Drousiotou, Anthi, Minaidou, Anna, Demetriou, Praxitelis, Voulgaris, Costas, Christodoulou, Kyproula, Tanteles, George A., Pantzaris, Marios
Published in Journal of the neurological sciences (15.11.2020)
Published in Journal of the neurological sciences (15.11.2020)
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