Search Results - "Drousiotou, Anthi"

When the Balance Tips: Dysregulation of Mitochondrial Dynamics as a Culprit in Disease by Kyriakoudi, Styliana, Drousiotou, Anthi, Petrou, Petros P

“…Mitochondria are dynamic organelles, the morphology of which is tightly linked to their functions. The interplay between the coordinated events of fusion and…”
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Mouse Stbd1 is N -myristoylated and affects ER-mitochondria association and mitochondrial morphology by Demetriadou, Anthi, Morales-Sanfrutos, Julia, Nearchou, Marianna, Baba, Otto, Kyriacou, Kyriacos, Tate, Edward W, Drousiotou, Anthi, Petrou, Petros P

“…Starch binding domain-containing protein 1 (Stbd1) is a carbohydrate-binding protein that has been proposed to be a selective autophagy receptor for glycogen…”
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Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content by Kyriakou, Kalia, Lederer, Carsten W, Kleanthous, Marina, Drousiotou, Anthi, Malekkou, Anna

“…The gene encodes acid ceramidase (AC), an enzyme that is implicated in the metabolism of ceramide (Cer). Mutations in the gene cause two different disorders,…”
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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report by Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P

“…Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene…”
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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics by 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.

“…Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases,…”
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Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia by Malekkou, Anna, Samarani, Maura, Drousiotou, Anthi, Votsi, Christina, Sonnino, Sandro, Pantzaris, Marios, Chiricozzi, Elena, Zamba-Papanicolaou, Eleni, Aureli, Massimo, Loberto, Nicoletta, Christodoulou, Kyproula

“…The gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose…”
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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing by 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.

“…Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid…”
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Inherited metabolic disorders in Cyprus by 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

“…Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD…”
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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease by Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi

“…Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage…”
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The "sweet" side of ER-mitochondria contact sites by Demetriadou, Anthi, Drousiotou, Anthi, Petrou, Petros P.

“…The regions at which the ER and mitochondria come into close proximity, known as ER-mitochondria contact sites provide essential platforms for the exchange of…”
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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata by Drousiotou, Anthi, Tanteles, George A., Sismani, Carolina, Krasia, Maria, Christodoulides, Theodoros, Savva, Isavella, Spanou-Aristidou, Elena, Alexandrou, Angelos, Mavrikiou, Gavriella, Georgiou, Theodoros, Anastasiadou, Violetta

“…Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized…”
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The Cypriot and Iranian National Mutation Frequency Databases by 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.

“…The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic…”
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Magnetic Resonance Imaging Findings and Novel Mutations in GM1 Gangliosidosis by Gururaj, Aithala, Sztriha, László, Hertecant, Josef, Johansen, Johan G., Georgiou, Theodoros, Campos, Yvan, Drousiotou, Anthi, d'Azzo, Alessandra

“…Two unrelated children and their siblings of Arab origin were diagnosed as having GM1 gangliosidosis on the basis of clinical features and markedly low levels…”
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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter by 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

“…The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype-phenotype correlations have previously been…”
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Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contact by Kyriakoudi, Styliana, Theodoulou, Andria, Potamiti, Louiza, Schumacher, Fabian, Zachariou, Margarita, Papacharalambous, Revekka, Kleuser, Burkhard, Panayiotidis, Mihalis I., Drousiotou, Anthi, Petrou, Petros P.

“…Starch binding domain-containing protein 1 (STBD1) is an endoplasmic reticulum (ER)-resident, glycogen-binding protein. In addition to glycogen, STBD1 has been…”
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Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts by Lytridou, Andria A, Demetriadou, Anthi, Christou, Melina, Potamiti, Louiza, Mastroyiannopoulos, Nikolas P, Kyriacou, Kyriacos, Phylactou, Leonidas A, Drousiotou, Anthi, Petrou, Petros P

“…Imbalances in endoplasmic reticulum (ER) homeostasis provoke a condition known as ER stress and activate the unfolded protein response (UPR) pathway, an…”
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Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum by Petrou, Petros, Pantzaris, Marios, Dionysiou, Maria, Drousiotou, Anthi, Kyriakides, Theodoros

“…ABSTRACT Introduction: We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. Methods:…”
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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene by Mavrikiou, Gavriella, Petrou, Petros, Georgiou, Theodoros, Drousiotou, Anthi

“…The purpose of this study was to determine the normal range of chitotriosidase activity in the Cypriot population and the frequency of the 24bp duplication…”
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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study by Papachristoforou, Rena, Petrou, Petros P., Sawyer, Hilary, Williams, Maggie, Drousiotou, Anthi

“…Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose‐1‐phosphate uridyltransferase…”
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A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia by 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

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