hpa026077

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GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals.

Jasmine A Luzum et al.

Cell metabolism, 21(4), 622-627 (2015-04-12)

Statin-induced myopathy (SIM) is the most common reason for discontinuation of statin therapy. A polymorphism affecting the gene encoding glycine amidinotransferase (GATM rs9806699 G > A) was previously associated with reduced risk for SIM. Our objective was to replicate the

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Caro-Lyne DesRoches et al.

Human mutation, 37(9), 926-932 (2016-05-29)

Arginine-glycine amidinotransferase (GATM) deficiency is an autosomal-recessive disorder caused by pathogenic variants in GATM. Clinical features include intellectual disability, hypotonia, and myopathy. Due to normal neurodevelopment in asymptomatic individuals on creatine monotherapy, GATM deficiency is a good candidate for newborn

Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.

Marcus E Kleber et al.

Circulation. Cardiovascular genetics, 6(5), 505-513 (2013-09-21)

Low serum levels of the amino acid derivative, homoarginine, have been associated with increased risk of total and cardiovascular mortality. Homoarginine deficiency may be related to renal and heart diseases, but the pathophysiologic role of homoarginine and the genetic regulation

Improvement of cognitive deficits in SAMP8 mice by 3-n-butylphthalide.

F Wang et al.

Neurological research, 36(3), 224-233 (2014-02-12)

The herbal extract 3-n-butylphthalide (NBP) is used in clinical practice for ischemic patients in China. It has been shown to have various neuroprotective effects both in vitro and in vivo. In the present study, the effects of NBP on learning

Vascular receptor autoantibodies in pulmonary arterial hypertension associated with systemic sclerosis.

Mike O Becker et al.

American journal of respiratory and critical care medicine, 190(7), 808-817 (2014-09-03)

Systemic sclerosis (SSc)-associated pulmonary arterial hypertension (PAH) portends worse outcome than other forms of PAH. Vasoconstrictive and vascular remodeling actions of endothelin (ET) 1 and angiotensin (Ang) II via endothelin receptor type A (ETAR) and Ang receptor type-1 (AT1R) activation

Hippocampal Lewy pathology and cholinergic dysfunction are associated with dementia in Parkinson's disease.

Hélène Hall et al.

Brain : a journal of neurology, 137(Pt 9), 2493-2508 (2014-07-27)

The neuropathological substrate of dementia in patients with Parkinson's disease is still under debate, particularly in patients with insufficient alternate neuropathology for other degenerative dementias. In patients with pure Lewy body Parkinson's disease, previous post-mortem studies have shown that dopaminergic

Does maternal-fetal transfer of creatine occur in pregnant sheep?

Syed Baharom et al.

American journal of physiology. Endocrinology and metabolism, 313(1), E75-E83 (2017-03-23)

Our aim was to determine the disposition of creatine in ovine pregnancy and whether creatine is transferred across the placenta from mother to fetus. Pregnant ewes received either 1) a continuous intravenous infusion of creatine monohydrate or saline from 122

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