Arsenite methyltransferase 3 is required for mitochondrial function and hepatic lipid metabolism
The FEBS Journal, EarlyView.AS3MT is a protein that helps the body process arsenic, a naturally occurring toxin found in water and soil. We discovered it also helps cells make and use energy properly. Without AS3MT, cells' mitochondria do not work well, leading to fatty liver and reduced activity. Increasing AS3MT in liver cells restores energy and protects against arsenic damage,
Patrice Delaney +10 more
wiley +1 more source
mattam82/Coq-Equations: Equations v1.2-beta for Coq 8.9
, 2019 <p>Release 1.2beta of Coq-Equations, see announcement here:</p> <p><a href="http://mattam82.github.io/Coq-Equations/equations/2019/01/28/1.2beta.html">http://mattam82.github.io/Coq-Equations/equations/2019/01/28/1.2beta.html</a&
Matthieu Sozeau +12 more
core +1 more source
Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency
Annals of Indian Academy of Neurology, 2023 Coenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of ...
Rithvik Ramesh +2 more
doaj +1 more source
UbiB proteins mediate an ATP‐dependent decarboxylation step in bacterial ubiquinone biosynthesis
The FEBS Journal, EarlyView.UbiB proteins are atypical protein kinase‐like enzymes essential for ubiquinone biosynthesis. Here, we demonstrate that bacterial UbiB proteins catalyze the O2‐dependent decarboxylation of ubiquinone precursors, a process linked to their ATPase activity.
Katayoun Kazemzadeh +12 more
wiley +1 more source
Genetics of primary CoQ10 deficiency
, 2020 Coenzyme Q (CoQ) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation ...
Navas, Plácido +4 more
core +1 more source
Gendered Harmony and Unsung Collections: Two Debussy Rabbit Holes
Music Analysis, EarlyView.ABSTRACT This review article on Mark McFarland's The Musical Relationship between Claude Debussy and Igor Stravinsky (2024) offers a critical reading of this recent text and treats its content as a springboard for the exploration of two issues untapped in existing musicological discourse.
Rajan Lal
wiley +1 more source
Functional validation of CoQ deficiency fibroblast model with COQ7 mutations [PDF]
, 2021 Motivation: Coenzyme Q10 (CoQ10) deficiency syndrome comprises a heterogeneous group of mitochondrial disorders characterized by a decrease in CoQ10 content in cells and tissues. Primary CoQ deficiencies are rare genetic conditions caused by mutations in
Cascajo Almenara, María V. +2 more
core +1 more source
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
PLoS Genetics, 2008 Coenzyme Q (CoQ) is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosphate
Min Peng +12 more
doaj +1 more source
Gene Therapy Corrects Mitochondrial Dysfunction in Hematopoietic Progenitor Cells and Fibroblasts from Coq9R239X Mice. [PDF]
PLoS ONE, 2016 Recent clinical trials have shown that in vivo and ex vivo gene therapy strategies can be an option for the treatment of several neurological disorders.
Eliana Barriocanal-Casado +8 more
doaj +1 more source
Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene
Acta Médica Portuguesa, 2022 Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be ...
Rita Rosado Santos +2 more
doaj +1 more source