Sulfite oxidase deficiency/molybdenum cofactor deficiency and epilepsy

JO Sass, B Plecko-Startinig - Inherited metabolic epilepsies, 2013 - books.google.com
In the human, the molybdenum cofactor (MoCo) is a cofactor for sulfite oxidase, aldehyde
oxidase, xanthine dehydrogenase, and for the mitochondrial amidoxime-reducing …

Towards a molecular understanding of water homeostasis in the brain

P Agre, S Nielsen, OP Ottersen - Neuroscience, 2004 - ibroneuroscience.org
Water transport is inextricably linked to a number of brain functions (Agre et al., 2002; Amiry-
Moghaddam et al., 2003a; Kimelberg, 2004). On the macroscopic scale, the production and …

Thiamine and magnesium deficiencies: keys to disease

D Lonsdale - Medical hypotheses, 2015 - Elsevier
Thiamine deficiency (TD) is accepted as the cause of beriberi because of its action in the
metabolism of simple carbohydrates, mainly as the rate limiting cofactor for the …

Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics

SY Hong, CH Lin - Epilepsy & Behavior, 2023 - Elsevier
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor
deficiency (MoCD), are a group of rare and severe neurometabolic disorders caused by …

Homocysteine, alcoholism and its molecular networks

S Bleich, T Hillemacher - Pharmacopsychiatry, 2009 - thieme-connect.com
The emerging research on biomarkers in alcohol dependence has lead to a deeper
understanding of the neurobiological mechanisms in alcoholism. The molecular networks …

Thiamine-dependent processes and treatment strategies in neurodegeneration

GE Gibson, JP Blass - Antioxidants & redox signaling, 2007 - liebertpub.com
Reductions in brain glucose metabolism and increased oxidative stress invariably occur in
Alzheimer's disease (AD) and thiamine (vitamin B1) deficiency. Both conditions cause …

Molecular genetics of the remethylation of homocysteine

A Chango, F Parrot-Roulaud… - Annales de Biologie …, 1999 - europepmc.org
In plasma of mothers with a child affected with a neural tube defect plasma homocysteine is
often elevated, and attributed to a reduced folate-dependent homocysteine remethylation …

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

S Kölker, SW Sauer, GF Hoffmann, I Müller… - Journal of inherited …, 2008 - Springer
Inherited disorders of amino and organic acid metabolism have a high cumulative
frequency, and despite heterogeneous aetiology and varying clinical presentation, the …

Priorities in the discovery of the implications of water channels in epilepsy and duchenne muscular dystrophy.

I Benga - Cellular and Molecular Biology (Noisy-le-Grand …, 2006 - europepmc.org
In addition to the priority in the discovery of the first water channel protein in the red blood
cell membrane the group of Gheorghe Benga in Cluj-Napoca, Romania, also has a world …

[图书][B] Molecular physiology and metabolism of the nervous system: a clinical perspective

GA Rosenberg - 2012 - books.google.com
The molecular basis for the physiology of the brain has advanced enormously in the past
twenty years with an influx of new information gleaned through technological developments …