Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity,
but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, …

This study assessed social behavior in a mouse model of Fragile X syndrome (FXS), the Fmr1
tm1Cgr or Fmr1" knockout"(KO) mouse. Both the KO and wild-type (WT) mice preferred to …

Nonalcoholic steatohepatitis (NASH) is characterized by steatosis, inflammation, and oxidative
stress. To investigate whether the transcription factor CCAAT/Enhancer binding protein (C…

Cystathionine β-synthase (CBS), condensing homocysteine and serine, represents a key
regulatory point in the biosynthesis of cysteine via the transsulfuration pathway. Inherited …

The incidence of obesity is now at epidemic proportions and has resulted in the emergence
of nonalcoholic fatty liver disease (NAFLD) as a common metabolic disorder that can lead to …

In addition to mental retardation, individuals with Down syndrome (DS) also develop the
neuropathological changes typical of Alzheimer's disease (AD) and the majority of these …

Homocysteine metabolism is altered in diabetic patients. Cystathionine β-synthase (CBS), a
key enzyme involved in the transsulfuration pathway, which irreversibly converts …

The integrated stress response mediated by eukaryotic translation initiation factor 2α (eIF2α)
phosphorylation maintains cellular homeostasis under endoplasmic reticulum (ER) stress. …

Alcoholic liver disease (ALD) is a primary cause of morbidity and mortality in the United
States and constitutes a significant socioeconomic burden. Previous work has implicated …

Cystathionine β-synthase [CBS;l-serine hydro-lyase (adding homocysteine), EC 4.2.1.22]
catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical …