Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat et al.
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified miss...
Gary L. Hedlund, Nicola Longo, Marzia Pasquali
Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the a...
Charles H. Rodeck, Marcus Pembrey, A. D. Patrick, C Tzannatos et al.
Md. Sahab Uddin, Md. Ataur Rahman, Md. Tanvir Kabir, Tapan Behl et al.
Age-related cognitive failure is a main devastating incident affecting even healthy people. Alzheimer's disease (AD) is the utmost common form of dementia among the geriatric community. In the pathogenesis of AD, cerebrovascular dysfunction is revealed before the beginning of the cognitive decline. ...
Xiangke Duan, Xue Huang, Xiaoyu Wang, Shuangquan Yan et al.
BACKGROUND: The increase in multiple antimicrobial-resistant bacteria seriously threatens global public health. Novel effective strategies are urgently needed. l-Serine was reported as the most effective amino acid inhibitor against bacterial growth and can sensitize Escherichia coli cells to gentam...
Naiyyum Choudhury, W Hansen, D. Engesser, Walter P. Hammes et al.
Journal Article Formation of histamine and tyramine by lactic acid bacteria in decarboxylase assay medium Get access N. Choudhury, N. Choudhury *Bangladesh Atomic Energy Commission, Bangladesh Search for other works by this author on: Oxford Academic Google Scholar W. Hansen, W. Hansen Institute of ...
M. Anwar Hossain, Enamul Huq, Anil Grover, Elizabeth S. Dennis et al.
The pdc1 gene encoding pyruvate decarboxylase has been isolated and sequenced from an IR54 rice genomic library. In contrast to a previously isolated intron-less rice genomic pdc, pRgpdc3, this gene contains five intervening introns in the coding region and corresponds to a cDNA clone, pRcpdc1, isol...
N. A. J. Carson, I. J. Carré
Homocystinuria is the result of an inborn error in the metabolism of the essential sulphur-containing amino acid, methionine (Carson and Neill, 1962; Gerritsen, Vaughn, and Waisman, 1962). There is now good evidence This results in an accumulation of homo- cysteine in the blood, and as this is a 'no...
Longxiang Xie, Jie Zeng, Hongping Luo, Weihua Pan et al.
The GCN5-related N-acetyltransferase (GNAT) superfamily of proteins, widespread in eukaryotes and prokaryotes, can utilize acyl coenzyme A (acyl CoA) to acylate respective acceptor substrates and release both CoA and the acylated products. GNATs have been shown to be involved in multiple physiologic...
Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, Kenji Yokochi et al.
By whole exome sequencing, we identified three de novo RHOBTB2 variants in three patients with epileptic encephalopathies (EEs). Interestingly, all three patients showed acute encephalopathy (febrile status epilepticus), with magnetic resonance imaging revealing hemisphere swelling or reduced diffus...
Suprovath Kumar Sarker, Md Tarikul Islam, Aparna Biswas, Golam Sarower Bhuyan et al.
Liquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specifi...
Horace F. Russo, L. D. Wright, H. R. Skegs, Elizabeth K. Tillson et al.
Renal clearance studies of threonine and phenylalanine in dogs have shown that the maximal rate of tubular re-absorption of these amino acids could not be exceeded by the administration of an amount of each amino acid sufficient to raise the plasma level to a value over 10 times that of the postabso...
El Hassan Hamdani, Mariusz Popek, Małgorzata Frontczak‐Baniewicz, Tor Paaske Utheim et al.
Abstract Ammonia is considered the main pathogenic toxin in hepatic encephalopathy (HE). However, the molecular mechanisms involved have been disputed. As altered glutamatergic and GABAergic neurotransmission has been reported in HE, we investigated whether four members of the solute carrier 38 (Slc...
Shigeki Watanabe, Mohammad Anwar-ul Azim, I. Nishinaka, Ichiro Sasaki et al.
The 211At-labeled compound, 4-[211At]astato-l-phenylalanine, is one of the most promising amino acid derivatives for use in targeted alpha therapy (TAT) for various cancers. Electrophilic demetallation of a stannyl precursor is the most widely used approach for labeling biomolecules with 211At. Howe...
M. J. I. Shohag, Qianying Yang, Yanyan Wei, Jie Zhang et al.
Previous published methods for the analysis of folates are time consuming because of lengthy sample extraction, clean-up and total running time. This study details the development and validation of a rapid, sensitive and robust method that combines a simple extraction step with ultra-performance liq...