Product References
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Journal of medical genetics
Laugwitz L,Seibt A,Herebian D,Peralta S,Kienzle I,Buchert R,Falb R,Gauck D,Müller A,Grimmel M,Beck-Woedel S,Kern J,Daliri K,Katibeh P,Danhauser K,Leiz S,Alesi V,Baertling F,Vasco G,Steinfeld R,Wagner M,Caglayan AO,Gumus H,Burmeister M,Mayatepek E,Martinelli D,Tamhankar PM,Tamhankar V,Joset P,Steindl K,Rauch A,Bonnen PE,Froukh T,Groeschel S,Krägeloh-Mann I,Haack TB,Distelmaier F
Thu Sep 01 00:00:00 UTC 2022
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
Journal of the American Society of Nephrology : JASN
Widmeier E,Yu S,Nag A,Chung YW,Nakayama M,Fernández-Del-Río L,Hugo H,Schapiro D,Buerger F,Choi WI,Helmstädter M,Kim JW,Ryu JH,Lee MG,Clarke CF,Hildebrandt F,Gee HY
Mon Jun 01 00:00:00 UTC 2020
Coenzyme Q biosynthetic proteins assemble in a substrate-dependent manner into domains at ER-mitochondria contacts.
The Journal of cell biology
Subramanian K,Jochem A,Le Vasseur M,Lewis S,Paulson BR,Reddy TR,Russell JD,Coon JJ,Pagliarini DJ,Nunnari J
Mon Apr 01 00:00:00 UTC 2019
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Molecular genetics and metabolism
Herebian D,Seibt A,Smits SHJ,Bünning G,Freyer C,Prokisch H,Karall D,Wredenberg A,Wedell A,López LC,Mayatepek E,Distelmaier F
Sat Jul 01 00:00:00 UTC 2017
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Molecular genetics and metabolism
Herebian D,Seibt A,Smits SHJ,Bünning G,Freyer C,Prokisch H,Karall D,Wredenberg A,Wedell A,López LC,Mayatepek E,Distelmaier F
Sat Jul 01 00:00:00 UTC 2017
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.
Frontiers in physiology
He CH,Black DS,Allan CM,Meunier B,Rahman S,Clarke CF
Sat Jan 29 00:00:00 UTC 2022
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.
Frontiers in physiology
He CH,Black DS,Allan CM,Meunier B,Rahman S,Clarke CF
Sat Jan 29 00:00:00 UTC 2022
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
The Journal of clinical investigation
Heeringa SF,Chernin G,Chaki M,Zhou W,Sloan AJ,Ji Z,Xie LX,Salviati L,Hurd TW,Vega-Warner V,Killen PD,Raphael Y,Ashraf S,Ovunc B,Schoeb DS,McLaughlin HM,Airik R,Vlangos CN,Gbadegesin R,Hinkes B,Saisawat P,Trevisson E,Doimo M,Casarin A,Pertegato V,Giorgi G,Prokisch H,Rötig A,Nürnberg G,Becker C,Wang S,Ozaltin F,Topaloglu R,Bakkaloglu A,Bakkaloglu SA,Müller D,Beissert A,Mir S,Berdeli A,Varpizen S,Zenker M,Matejas V,Santos-Ocaña C,Navas P,Kusakabe T,Kispert A,Akman S,Soliman NA,Krick S,Mundel P,Reiser J,Nürnberg P,Clarke CF,Wiggins RC,Faul C,Hildebrandt F
Sun May 01 00:00:00 UTC 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
The Journal of clinical investigation
Heeringa SF,Chernin G,Chaki M,Zhou W,Sloan AJ,Ji Z,Xie LX,Salviati L,Hurd TW,Vega-Warner V,Killen PD,Raphael Y,Ashraf S,Ovunc B,Schoeb DS,McLaughlin HM,Airik R,Vlangos CN,Gbadegesin R,Hinkes B,Saisawat P,Trevisson E,Doimo M,Casarin A,Pertegato V,Giorgi G,Prokisch H,Rötig A,Nürnberg G,Becker C,Wang S,Ozaltin F,Topaloglu R,Bakkaloglu A,Bakkaloglu SA,Müller D,Beissert A,Mir S,Berdeli A,Varpizen S,Zenker M,Matejas V,Santos-Ocaña C,Navas P,Kusakabe T,Kispert A,Akman S,Soliman NA,Krick S,Mundel P,Reiser J,Nürnberg P,Clarke CF,Wiggins RC,Faul C,Hildebrandt F
Sun May 01 00:00:00 UTC 2011