Cystathionine β-synthase deficiency: Of mice and men
نویسندگان
چکیده
منابع مشابه
Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase
BACKGROUND The cystathionine β-synthase (CBS) gene, located on human chromosome 21q22.3, is a good candidate for playing a role in the Down Syndrome (DS) cognitive profile: it is overexpressed in the brain of individuals with DS, and it encodes a key enzyme of sulfur-containing amino acid (SAA) metabolism, a pathway important for several brain physiological processes. METHODOLOGY/PRINCIPAL FI...
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Cystathionine beta synthase (CBS) is the rate-limiting enzyme responsible for the de novo synthesis of cysteine. Patients with CBS deficiency have greatly elevated plasma total homocysteine (tHcy), decreased levels of plasma total cysteine (tCys), and often a marfanoid appearance characterized by thinness and low body-mass index (BMI). Here, we characterize the growth and body mass characterist...
متن کاملCystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice
Missense mutations in the cystathionine beta-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this mutation causes disease in vivo, we have created mice lacking endogenous mouse CBS and expressi...
متن کاملHomocystinuria due to cystathionine beta synthase deficiency.
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2017
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2017.05.011