Search Results - "AKMAN, H. O"

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation by QUINZII, C. M, KATTAH, A. G, NAINI, A, AKMAN, H. O, MOOTHA, V. K, DIMAURO, S, HIRANO, M

“…Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these…”
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Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? by PREISLER, N, ORNGREEN, M. C, ECHANIZ-LAGUNA, A, LAFORET, P, LONSDORFER-WOLF, E, DOUTRELEAU, S, GENY, B, AKMAN, H. O, DIMAURO, S, VISSING, J

“…To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen…”
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? by ORNGREEN, M. C, SCHELHAAS, H. J, JEPPESEN, T. D, AKMAN, H. O, WEVERS, R. A, ANDERSEN, S. T, TER LAAK, H. J, VAN DIGGELEN, O. P, DIMAURO, S, VISSING, J

“…It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism,…”
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Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies by Taratuto, A.L, Akman, H.O, Saccoliti, M, Riudavets, M, Arakaki, N, Mesa, L, Sevlever, G, Goebel, H, DiMauro, S

“…Abstract The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding…”
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Placental Involvement in Glycogen Storage Disease Type IV by Konstantinidou, A.E, Anninos, H, Dertinger, S, Nonni, A, Petersen, M, Karadimas, C, Havaki, S, Marinos, E, Akman, H.O, DiMauro, S, Patsouris, E

“…Abstract Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in…”
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Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis by Konstantinidou, A E, Anninos, H, Gyftodimou, Y, Petersen, M B, Karadimas, C, Fotopoulos, S, Paraskevakou, H, Akman, H O, DiMauro, S, Patsouris, E

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A new muscle glycogen storage disease associated with glycogenin-1 deficiency by Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, Van den Bergh, Peter, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders

“…We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed…”
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Bayes estimation in a mixture inverse Gaussian model by GUPTA, R. C, AKMAN, H. O

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Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation by DORADO, Beatriz, AREA, Estela, AKMAN, Hasan O, HIRANO, Michio

“…Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To…”
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Antioxidant therapy of cobalt and vitamin E in hemosiderosis by Inan, Çiǧdem, Kilinç, Kamer, Kotiloǧlu, Esin, Akman, Hasan Orhan, Kiliç, Ilknur, Michl, Josef

“…The protective effects of cobalt and vitamin E in iron overloaded rats were investigated. Rats were divided into four groups: group I as control, group 2…”
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MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139) by Garone, C., Calvo, S., Emmanuele, V., Akman, O. H., Kaplan, P., Krishna, S., Mootha, V., DiMauro, S., Hirano, M.

“…Abstract only…”
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Glycogen synthase ( GYS1) mutation causes a novel skeletal muscle glycogenosis by McCue, Molly E., Valberg, Stephanie J., Miller, Michael B., Wade, Claire, DiMauro, Salvatore, Akman, Hasan O., Mickelson, James R.

“…Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage…”
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Circulating endothelial progenitor cells in multiple myeloma: implications and significance by Zhang, Hong, Vakil, Varsha, Braunstein, Marc, Smith, Eric L.P., Maroney, Justin, Chen, Laurie, Dai, Kezhi, Berenson, James R., Hussain, M.Mahmood, Klueppelberg, Uwe, Norin, Allen J., Akman, Hasan O., Özçelik, Tayfun, Batuman, Olcay A.

“…Angiogenesis governs the progression of multiple myeloma (MM). Circulating endothelial cells (CECs) contribute to angiogenesis and comprise mature ECs and…”
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Cellular response to hypoxia involves signaling via Smad proteins by Zhang, Hong, Akman, Hasan O., Smith, Eric L.P., Zhao, Jin, Murphy-Ullrich, Joanne E., Batuman, Olcay A.

“…The transforming growth factor-β (TGF-β) family of cytokines regulates vascular development and inflammatory responses. We have recently shown that exposure of…”
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Response to hypoxia involves transforming growth factor-beta2 and Smad proteins in human endothelial cells by Akman, H O, Zhang, H, Siddiqui, M A, Solomon, W, Smith, E L, Batuman, O A

“…Oxygen deprivation (hypoxia) is a consistent component of ischemia that induces an inflammatory and prothrombotic response in the endothelium. In this report,…”
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Adult polyglucosan body disease: A case report of a manifesting heterozygote by Ubogu, Eroboghene E., Hong, Stacey Tay Kiat, Akman, Hasan Orhan, Dimauro, Salvatore, Katirji, Bashar, Preston, David C., Shapiro, Barbara E.

“…A 62‐year‐old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6…”
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Fatal infantile neuromuscular presentation of glycogen storage disease type IV by Tay, Stacey K.H., Akman, Hasan O., Chung, Wendy K., Pike, Michael G., Muntoni, Francesco, Hays, Arthur P., Shanske, Sara, Valberg, Stephanie J., Mickelson, James R., Tanji, Kurenai, DiMauro, Salvatore

“…Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen…”
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Effects of Resveratrol in Storage Solution on Adhesion Molecule Expression and Nitric Oxide Synthesis in Vein Grafts by Kaplan, Sadi, Morgan, Jeffrey A., Bisleri, Gianluigi, Cheema, Faisal H., Akman, Hasan O., Topkara, Veli K., Oz, Mehmet C.

“…Endothelial injury in human saphenous vein grafts may occur during harvesting and storage, which may have an adverse effect on coronary artery bypass grafting…”
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Differential, tissue-specific, transcriptional regulation of apolipoprotein B secretion by transforming growth factor beta by Singh, Karnail, Batuman, Olcay A, Akman, Hassan O, Kedees, Mamdouh H, Vakil, Varsha, Hussain, M Mahmood

“…Apolipoprotein B (apoB) is required for the assembly and secretion of triglyceride-rich lipoproteins. ApoB synthesis is constitutive, and post-translational…”
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Differential, Tissue-specific, Transcriptional Regulation of Apolipoprotein B Secretion by Transforming Growth Factor [beta] by Singh, K, Batuman, O A, Akman, HO, Kedees, M H, Vakil, V, Hussain, M M

“…Apolipoprotein B (apoB) is required for the assembly and secretion of triglyceride-rich lipoproteins. ApoB synthesis is constitutive, and post-translational…”
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