Search Results - "Quinzii, C. M."

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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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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Human CoQ10 deficiencies by Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.

“…Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid‐soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10…”
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Genetics of Primary CoQ10 Deficiency by Naini, A., Quinzii, C., Navas, P., DiMauro, S., Hirano, M.

“…Coenzyme Q10 (CoQ10) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc1 complex)…”
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Cerebellar ataxia and severe muscle CoQ sub(10) deficiency in a patient with a novel mutation in ADCK3 by Barca, E, Musumeci, O, Montagnese, F, Marino, S, Granata, F, Nunnari, D, Peverelli, L, DiMauro, S, Quinzii, C M, Toscano, A

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 by Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio

“…Scapuloperoneal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the shoulder-girdle and peroneal muscles. In a…”
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CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway by Kleiner, Giulio, Barca, Emanuele, Ziosi, Marcello, Emmanuele, Valentina, Xu, Yimeng, Hidalgo-Gutierrez, Agustin, Qiao, Changhong, Tadesse, Saba, Area-Gomez, Estela, Lopez, Luis C., Quinzii, Catarina M.

“…Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is the most common phenotype associated with primary coenzyme Q10…”
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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects by López, Luis C, Quinzii, Catarina M, Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, Dimauro, Salvatore, Hirano, Michio

“…Coenzyme Q(10) (CoQ(10)) and its analogs are used therapeutically by virtue of their functions as electron carriers, antioxidant compounds, or both. However,…”
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Human CoQ 10 deficiencies by Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.

“…Abstract Coenzyme Q 10 (CoQ 10 or ubiquinone) is a lipid‐soluble component of virtually all cell membranes and has multiple metabolic functions. A major…”
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Human CoQ sub(10) deficiencies by Quinzii, C M, Lopez, L C, Naini, A, DiMauro, S, Hirano, M

“…Coenzyme Q sub(10) (CoQ sub(10) or ubiquinone) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. A major…”
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Leigh Syndrome with Nephropathy and CoQ sub(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations by Lopez, L C, Schuelke, M, Quinzii, C M, Kanki, T, Rodenburg, RJT, Naini, A, DiMauro, S, Hirano, M

“…Coenzyme Q sub(10) (CoQ sub(10)) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex…”
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Heterogeneity of coenzyme Q10 deficiency: patient study and literature review by Emmanuele, Valentina, López, Luis C, López, Luis, Berardo, Andres, Naini, Ali, Tadesse, Saba, Wen, Bing, D'Agostino, Erin, Solomon, Martha, DiMauro, Salvatore, Quinzii, Catarina, Hirano, Michio

“…Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease,…”
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