نتایج جستجو برای: aspartoacylase enzyme

تعداد نتایج: 241038  

Journal: :genetics in the 3rd millennium 0
یوسف شفقتی yousef shafeghati genetics research center, university of welfare science and rehabilitationمرکز تحقیقات ژنتیک دانشگاه علوم بهزیستی و توان بخشی

mucopolysaccharidoses are a group of rare mostly autosomal recessive metabolic and genetic disorders. because of the high rate of consanguinity, they are not uncommon in our population. clinical diagnosis is not difficult for experienced physicians, but it is not enough for treatment and prevention measures in the future pregnancies. so, it is necessary to detect the type of mps by measurement ...

Journal: :Experimental animals 2007
Hiroshi Gohma Takashi Kuramoto Reuben Matalon Sankar Surendran Stephen Tyring Kazuhiro Kitada Masashi Sasa Tadao Serikawa

The Spontaneously Epileptic Rat (SER), a double-mutant for tremor and zitter mutations, shows spontaneous occurrences of absence-like and tonic seizures. Several lines of evidence suggest that the combined effect of Aspa and Atrn mutations is the most likely cause of the epileptic phenotype of the SER. To address this issue, we produced a new double-mutant mouse line carrying both homozygous As...

2014
Emmanuel L. Gautier Stoyan Ivanov Jesse W. Williams Stanley Ching-Cheng Huang Genevieve Marcelin Keke Fairfax Peter L. Wang Jeremy S. Francis Paola Leone David B. Wilson Maxim N. Artyomov Edward J. Pearce Gwendalyn J. Randolph

The transcription factor Gata6 regulates proliferation and differentiation of epithelial and endocrine cells and cancers. Among hematopoietic cells, Gata6 is expressed selectively in resident peritoneal macrophages. We thus examined whether the loss of Gata6 in the macrophage compartment affected peritoneal macrophages, using Lyz2-Cre x Gata6(flox/flox) mice to tackle this issue. In Lyz2-Cre x ...

Journal: :AJNR. American journal of neuroradiology 2010
S L Wootton-Gorges M H Buonocore R A Caltagirone N Kuppermann N S Glaser

Recent data suggest that DKA may contribute to cognitive impairment in children with type 1 DM. We measured the NAA/Cr ratio in a teenager during and following 2 separate episodes of DKA without clinically apparent cerebral edema. The NAA/Cr ratio decreased during DKA and improved following recovery. However, the NAA/Cr value was lower after the second episode of DKA (1.76) than after the first...

Journal: :Journal of Alzheimer's disease : JAD 2015
Lidia Glodzik Marc Sollberger Achim Gass Amit Gokhale Henry Rusinek James S Babb Jochen G Hirsch Michael Amann Andreas U Monsch Oded Gonen

BACKGROUND Mild cognitive impairment (MCI) is an intermediary state on the way to Alzheimer's disease (AD). Little is known about whole brain concentration of the neuronal marker, N-acetylaspartate (NAA) in MCI patients. OBJECTIVE To test the hypothesis that since MCI and AD are both neurodegenerative, quantification of the NAA in their whole brain (WBNAA) could differentiate them from cognit...

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