Results 121 to 130 of about 48,907 (300)

The disease‐linked R336C mutation in cystathionine β‐synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity

open access: yesThe FEBS Journal, EarlyView.
Cystathionine β‐synthase (CBS) is an essential enzyme involved in cysteine metabolism. The mutation R336C, associated with severe homocystinuria and of high incidence in Qatar, reduces its activity. Our research shows that this mutation does not destabilize the enzyme fold but subtly alters the tautomeric equilibrium of the PLP cofactor within the ...
Carolina Conter   +10 more
wiley   +1 more source

Vitamin B6 metabolites in idiopathic calcium stone formers: no evidence for a link to hyperoxaluria [PDF]

open access: yes, 2018
Vitamin B6 metabolites and their potential correlates to urinary oxalate excretion in idiopathic calcium stone formers (ICSF) compared with healthy subjects were investigated.
Casez, Jean-Paul   +2 more
core  

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

open access: yesThe FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona   +11 more
wiley   +1 more source

Do dietary patterns in older men influence change in homocysteine through folate fortification? The Normative Aging Study [PDF]

open access: yes
Objective We aimed to describe the difference in B-vitamin intake and in plasma B-vitamin and homocysteine concentrations before and after folic acid fortification, in relation to dietary patterns. Design The Normative Aging Study (NAS) is a longitudinal
Groot, C.P.G.M., de   +5 more
core   +2 more sources

The Pyridoxal Phosphate-dependent Oxidative Decarboxylation of Methionine by Peroxidase

open access: hybrid, 1962
Mendel Mazelis   +2 more
openalex   +2 more sources

A New Synthesis of Pyridoxal-5-phosphate [PDF]

open access: bronze, 1968
Masaru Iwanami   +2 more
openalex   +1 more source

Controversies in NEN: An ENETS position statement on nutritional support in neuroendocrine neoplasms

open access: yesJournal of Neuroendocrinology, EarlyView.
Abstract Neuroendocrine neoplasms (NEN) themselves and also their treatment may cause malnutrition, inducing changes in physiological behaviour and eventually leading to increased rates of morbidity and mortality. Malnutrition is a common, under‐recognised and under‐treated condition in patients with NEN, and there are limited data available on the ...
Simona Grozinsky‐Glasberg   +53 more
wiley   +1 more source

Influence of Vitamin D Level on Oral Health Status in Adult Hypophosphatasia

open access: yesJournal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Aim Vitamin D deficiency is common in hypophosphatasia (HPP) patients. However, its impact on oral health is unclear. Therefore, the purpose of this study was to investigate the relationship between Vitamin D levels and oral health in adults with hypophosphatasia.
Florian Dudde   +8 more
wiley   +1 more source

The prevalence of the elevation serum alanine amino transaminase at gorgan in Northern Iran [PDF]

open access: yes, 2011
The elevation of serum alanine aminotranferase levels is associated most commonly with some forms of liver diseases. The aim of this study was to determine the prevalence of elevated serum alanine aminotransferase levels and the possible liver damages in
Mansourian, A.R.   +2 more
core  

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