يعرض 1 - 10 نتائج من 24 نتيجة بحث عن '"COQ4"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells

    المؤلفون: Pelosi, Ludovic, Morbiato, Laura, Burgardt, Arthur, Tonello, Fiorella, Bartlett, Abigail, Guerra, Rachel, Ferizhendi, Katayoun Kazemzadeh, Desbats, Maria Andrea, Rascalou, Bérengère, Marchi, Marco, Vázquez-Fonseca, Luis, Agosto, Caterina, Zanotti, Giuseppe, Roger-Margueritat, Morgane, Alcázar-Fabra, María, García-Corzo, Laura, Sánchez-Cuesta, Ana, Navas, Plácido, Brea-Calvo, Gloria, Trevisson, Eva, Wendisch, Volker, Pagliarini, David, Salviati, Leonardo, Pierrel, Fabien

    المساهمون: Translational microbial Evolution and Engineering (TIMC-TrEE), Translational Innovation in Medicine and Complexity / Recherche Translationnelle et Innovation en Médecine et Complexité - UMR 5525 (TIMC ), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)

    المصدر: ISSN: 1097-2765.

    مصطلحات موضوعية: Coenzyme Q, Coenzyme Q biosynthesis, COQ4, Oxidative decarboxylation, mitochondria, respiratory chain, Coenzyme Q deficiency, [SDV]Life Sciences [q-bio]

    العلاقة: hal-04450030; https://hal.science/hal-04450030Test; https://hal.science/hal-04450030/documentTest; https://hal.science/hal-04450030/fileTest/COQ4.pdf

    الإتاحة: https://doi.org/10.1016/j.molcel.2024.01.003Test
    https://hal.science/hal-04450030Test
    https://hal.science/hal-04450030/documentTest
    https://hal.science/hal-04450030/fileTest/COQ4.pdf

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  2. 2
    دورية أكاديمية
    Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    المؤلفون: Romero Moya, Damià, Santos Ocaña, Carlos, Castaño, Julio, Garrabou, Gloria, Rodríguez Gómez, José Antonio, Ruiz Bonilla, Vanesa, Bueno, Clara, González Rodríguez, Patricia, Giorgetti, Alessandra, Perdiguero, Eusebio, Prieto, Cristina, Moren Núñez, Constanza, Fernández Ayala, Daniel J., Victoria Cascajo, María, Velasco, Iván, Canals, Josep María, Montero, Raquel, Yubero, Delia, Jou, Cristina, López Barneo, José, Cardellac, Francesc, Muñoz Cánoves, Pura, Artuch, Rafael, Navas, Plácido, Menéndez, Pablo

    المساهمون: Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular, Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica, Instituto de Salud Carlos III, European Research Council (ERC), Generalitat de Catalunya

    مصطلحات موضوعية: Coenzyme Q10, COQ4, Induced pluripotent stem cell, CRISPR-Cas9, Dopaminergic and motor neurons, Skeletal muscle

    العلاقة: Stem Cells, 35 (7), 1687-1703.; ERC-2014-CoG-646903; E-Rare-2 Call PI12/03112; SGR330; https://doi.org/10.1002/stem.2634Test; https://idus.us.es/handle//11441/147773Test

    الإتاحة: https://doi.org/10.1002/stem.2634Test
    https://idus.us.es/handle//11441/147773Test

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  3. 3
    دورية أكاديمية
    Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment

    المؤلفون: Jieqiong Xie, Jiayang Jiang, Qiwei Guo

    المصدر: Frontiers in Genetics, Vol 12 (2022)

    مصطلحات موضوعية: COQ4, c.370G>A variant, phenotype-genotype correlation, primary coenzyme Q10 deficiency, exon, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.776807/fullTest; https://doaj.org/toc/1664-8021Test

    الوصول الحر: https://doaj.org/article/ebc522ba34a14ab5ad0e52c493b7e6f9Test

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  4. 4
    دورية أكاديمية
    Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

    المؤلفون: Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini

    المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 23-27 (2017)

    مصطلحات موضوعية: CoQ10 deficiency, CoQ4, Infantile cardiomyopathy, Encephalomyopathy, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426917300368Test; https://doaj.org/toc/2214-4269Test

    الوصول الحر: https://doaj.org/article/753e2cc8a6654c369b7d2bc8b9a8c4b8Test

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  5. 5
    دورية أكاديمية
    Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

    المؤلفون: Ling, Tsz-ki, Law, Chun-yiu, Yan, Kin-wing, Fong, Nai-chung, Wong, Ka-chung, Lee, Ka-lok, Chiu-wing Chu, Winnie, Brea-Calvo, Gloria, Lam, Ching-wan

    المساهمون: S. K. Yee Medical Foundation

    مصطلحات موضوعية: COQ4, Clinical whole-exome sequencing, Mitochondriopathy, Common mutation

    العلاقة: Preprint; http://dx.doi.org/10.1016/j.cca.2019.07.016Test; Sí; Clinica Chimica Acta 497: 88-94 (2019); 0009-89812; http://hdl.handle.net/10261/202166Test; 1873-349

    الإتاحة: https://doi.org/10.1016/j.cca.2019.07.016Test
    http://hdl.handle.net/10261/202166Test

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  6. 6
    دورية أكاديمية
    Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

    المؤلفون: Romero-Moya, Damià, Santos-Ocaña, Carlos, Castaño, Julio, Garrabou, Gloria, Rodríguez-Gómez, José A, Ruiz-Bonilla, Vanesa, Bueno, Clara, González-Rodríguez, Patricia, Giorgetti, Alessandra, Perdiguero, Eusebio, Prieto, Cristina, Moren-Nuñez, Constanza, Fernández-Ayala, Daniel J, Victoria Cascajo, Maria, Velasco, Iván, Canals, Josep Maria, Montero, Raquel, Yubero, Delia, Jou, Cristina, López-Barneo, José, Cardellach, Francesc, Muñoz-Cánoves, Pura, Artuch, Rafael, Navas, Plácido, Menendez, Pablo

    مصطلحات موضوعية: COQ4, CRISPR-Cas9, Coenzyme Q10, Dopaminergic and motor neurons, Induced pluripotent stem cell, Skeletal muscle, Ataxia, CRISPR-Cas Systems, Cell Differentiation, Child, Preschool, Dopaminergic Neurons, Electron Transport Chain Complex Proteins, Fatal Outcome, Female, Fibroblasts, Gene Editing, Gene Expression, Genes, Lethal, Humans, Induced Pluripotent Stem Cells, Intellectual Disability, Mitochondria, Mitochondrial Diseases, Mitochondrial Proteins, Motor Neurons, Muscle Weakness, Primary Cell Culture, Rhabdomyolysis

    العلاقة: http://hdl.handle.net/10668/11172Test

    الإتاحة: https://doi.org/10.1002/stem.2634Test
    http://hdl.handle.net/10668/11172Test

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  7. 7
    DataSheet1_Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.PDF

    المؤلفون: Jieqiong Xie (12001103), Jiayang Jiang (5235479), Qiwei Guo (647373)

    مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, COQ4, c.370G>A variant, phenotype-genotype correlation, primary coenzyme Q10 deficiency, exon

    العلاقة: https://figshare.com/articles/dataset/DataSheet1_Primary_Coenzyme_Q10_Deficiency-7_and_Pathogenic_COQ4_Variants_Clinical_Presentation_Biochemical_Analyses_and_Treatment_PDF/19068851Test

    الإتاحة: https://doi.org/10.3389/fgene.2021.776807.s001Test

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  8. 8
    Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

    المؤلفون: Ka-lok Lee, Tsz-ki Ling, Winnie C.W. Chu, Gloria Brea-Calvo, Ching-Wan Lam, Kin-wing Yan, Chun-Yiu Law, Ka-chung Wong, Nai-Chung Fong

    المساهمون: S. K. Yee Medical Foundation

    المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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    مصطلحات موضوعية: 0301 basic medicine, South asia, Clinical Biochemistry, Encephalopathy, Cardiomyopathy, COQ4, Disease, Biochemistry, Mitochondriopathy, 03 medical and health sciences, 0302 clinical medicine, Medicine, Clinical whole-exome sequencing, In patient, Exome sequencing, Genetics, business.industry, Common mutation, Biochemistry (medical), CoQ Deficiency, General Medicine, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Population data, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf985c3fe42f4f0117302b8d78bb44bTest
    https://doi.org/10.1016/j.cca.2019.07.016Test


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  9. 9
    New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

    المؤلفون: Anna Rubegni, Roberta Battini, Maria Andrea Desbats, Maria Marchese, Daniele Galatolo, Vincenzo Leuzzi, Francesca Nardecchia, Filippo M. Santorelli, Maria Novelli, Serena Mero, Valentina Naef, Alessandra Tessa, Federica Gemignani, Cristina Calderan, Leonardo Salviati

    المصدر: Journal of Neurology.

    مصطلحات موضوعية: Enzyme complex, Mitochondrial Diseases, Ataxia, Ubiquinone, COQ4, Compound heterozygosity, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Animals, Humans, Missense mutation, 030212 general & internal medicine, Cas9, CRISPR, Yeast complementation assay, Zebrafish, Genetics, Muscle Weakness, biology, Muscles, Fibroblasts, biology.organism_classification, medicine.disease, Neurodevelopmental Disorders, Phenotype, Complementation, Neurology, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a112524897aa66d216863feb1b5cee2Test
    https://doi.org/10.1007/s00415-021-10509-6Test


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  10. 10
    دورية أكاديمية
    New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

    المؤلفون: Mero S., Salviati L., Leuzzi V., Rubegni A., Calderan C., Nardecchia F., Galatolo D., Desbats M. A., Naef V., Gemignani F., Novelli M., Tessa A., Battini R., Santorelli F. M., Marchese M.

    المساهمون: Mero, S., Salviati, L., Leuzzi, V., Rubegni, A., Calderan, C., Nardecchia, F., Galatolo, D., Desbats, M. A., Naef, V., Gemignani, F., Novelli, M., Tessa, A., Battini, R., Santorelli, F. M., Marchese, M.

    مصطلحات موضوعية: Ataxia, Cas9, COQ4, CRISPR, Yeast complementation assay, Zebrafish

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33704555; info:eu-repo/semantics/altIdentifier/wos/WOS:000627716700005; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11573/1541832Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102491970

    الإتاحة: https://doi.org/10.1007/s00415-021-10509-6Test
    http://hdl.handle.net/11573/1541832Test

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