Literature DB >> 30847826

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Ahmet Okay Caglayan1, Hakan Gumus2, Erin Sandford3, Thomas L Kubisiak3, Qianyi Ma4, A Bilge Ozel4, Huseyin Per2, Jun Z Li4, Vikram G Shakkottai5, Margit Burmeister6,7.   

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Year:  2019        PMID： 30847826      PMCID： PMC6536000          DOI： 10.1007/s12311-019-01011-x

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  15 in total

1.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

2.  Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Authors:  Leonardo Salviati; Eva Trevisson; Maria Angeles Rodriguez Hernandez; Alberto Casarin; Vanessa Pertegato; Mara Doimo; Matteo Cassina; Caterina Agosto; Maria Andrea Desbats; Geppo Sartori; Sabrina Sacconi; Luigi Memo; Orsetta Zuffardi; Rafael Artuch; Catarina Quinzii; Salvatore Dimauro; Michio Hirano; Carlos Santos-Ocaña; Plácido Navas
Journal:  J Med Genet       Date:  2012-03       Impact factor: 6.318

Review 3.  Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

Authors:  Y-M Sun; C Lu; Z-Y Wu
Journal:  Clin Genet       Date:  2016-06-30       Impact factor: 4.438

4.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

5.  Coenzyme Q10 and spinocerebellar ataxias.

Authors:  Raymond Y Lo; Karla P Figueroa; Stefan M Pulst; Chi-Ying Lin; Susan Perlman; George Wilmot; Christopher Gomez; Jeremy Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah Ying; Theresa Zesiewicz; Khalaf Bushara; Michael Geschwind; Guangbin Xia; S H Subramony; Tetsuo Ashizawa; Sheng-Han Kuo
Journal:  Mov Disord       Date:  2014-12-01       Impact factor: 10.338

6.  Scale for the assessment and rating of ataxia: development of a new clinical scale.

Authors:  T Schmitz-Hübsch; S Tezenas du Montcel; L Baliko; J Berciano; S Boesch; C Depondt; P Giunti; C Globas; J Infante; J-S Kang; B Kremer; C Mariotti; B Melegh; M Pandolfo; M Rakowicz; P Ribai; R Rola; L Schöls; S Szymanski; B P van de Warrenburg; A Dürr; T Klockgether; Roberto Fancellu
Journal:  Neurology       Date:  2006-06-13       Impact factor: 9.910

7.  Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Authors:  Wendy K Chung; Kimberly Martin; Chaim Jalas; Stephen R Braddock; Jane Juusola; Kristin G Monaghan; Barbara Warner; Samuel Franks; Marc Yudkoff; Lauren Lulis; Roy H Rhodes; Vinay Prasad; Erin Torti; Megan T Cho; Marwan Shinawi
Journal:  J Med Genet       Date:  2015-07-16       Impact factor: 6.318

Review 8.  Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Authors:  Maria Andrea Desbats; Giada Lunardi; Mara Doimo; Eva Trevisson; Leonardo Salviati
Journal:  J Inherit Metab Dis       Date:  2014-08-05       Impact factor: 4.982

Review 9.  Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Authors:  Brent L Fogel; Hane Lee; Samuel P Strom; Joshua L Deignan; Stanley F Nelson
Journal:  Ann N Y Acad Sci       Date:  2015-08-06       Impact factor: 5.691

10.  COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Authors:  Gloria Brea-Calvo; Tobias B Haack; Daniela Karall; Akira Ohtake; Federica Invernizzi; Rosalba Carrozzo; Laura Kremer; Sabrina Dusi; Christine Fauth; Sabine Scholl-Bürgi; Elisabeth Graf; Uwe Ahting; Nicoletta Resta; Nicola Laforgia; Daniela Verrigni; Yasushi Okazaki; Masakazu Kohda; Diego Martinelli; Peter Freisinger; Tim M Strom; Thomas Meitinger; Costanza Lamperti; Atilano Lacson; Placido Navas; Johannes A Mayr; Enrico Bertini; Kei Murayama; Massimo Zeviani; Holger Prokisch; Daniele Ghezzi
Journal:  Am J Hum Genet       Date:  2015-02-05       Impact factor: 11.025
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  7 in total

Review 1.  An Overview of the Current State and the Future of Ataxia Treatments.

Authors:  Kimberly Tsu Kwei; Sheng-Han Kuo
Journal:  Neurol Clin       Date:  2020-02-27       Impact factor: 3.806

2.  Mitochondrial Coenzyme Q10 Determination Via Isotope Dilution Liquid Chromatography -Tandem Mass Spectrometry.

Authors:  Erik Hedman; Outi Itkonen
Journal:  Methods Mol Biol       Date:  2021

3.  Current progress in the therapeutic options for mitochondrial disorders.

Authors:  E Koňaříková; A Marković; Z Korandová; J Houštěk; T Mráček
Journal:  Physiol Res       Date:  2020-11-02       Impact factor: 1.881

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

Authors:  Serena Mero; Leonardo Salviati; Vincenzo Leuzzi; Anna Rubegni; Cristina Calderan; Francesca Nardecchia; Daniele Galatolo; Maria Andrea Desbats; Valentina Naef; Federica Gemignani; Maria Novelli; Alessandra Tessa; Roberta Battini; Filippo M Santorelli; Maria Marchese
Journal:  J Neurol       Date:  2021-03-11       Impact factor: 4.849

Review 5.  Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.

Authors:  Jieqiong Xie; Jiayang Jiang; Qiwei Guo
Journal:  Front Genet       Date:  2022-01-26       Impact factor: 4.599

Review 6.  Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation.

Authors:  Simona Pisanti; Erika Rimondi; Elena Pozza; Elisabetta Melloni; Enrico Zauli; Maurizio Bifulco; Rosanna Martinelli; Annalisa Marcuzzi
Journal:  Int J Environ Res Public Health       Date:  2022-07-25       Impact factor: 4.614

7.  Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Authors:  Andreas Traschütz; Tommaso Schirinzi; Lucia Laugwitz; Nathan H Murray; Craig A Bingman; Selina Reich; Jan Kern; Anna Heinzmann; Gessica Vasco; Enrico Bertini; Ginevra Zanni; Alexandra Durr; Stefania Magri; Franco Taroni; Alessandro Malandrini; Jonathan Baets; Peter de Jonghe; Willem de Ridder; Matthieu Bereau; Stephanie Demuth; Christos Ganos; A Nazli Basak; Hasmet Hanagasi; Semra Hiz Kurul; Benjamin Bender; Ludger Schöls; Ute Grasshoff; Thomas Klopstock; Rita Horvath; Bart van de Warrenburg; Lydie Burglen; Christelle Rougeot; Claire Ewenczyk; Michel Koenig; Filippo M Santorelli; Mathieu Anheim; Renato P Munhoz; Tobias Haack; Felix Distelmaier; David J Pagliarini; Hélène Puccio; Matthis Synofzik
Journal:  Ann Neurol       Date:  2020-06-10       Impact factor: 11.274
  7 in total

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