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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

New funding to UC Riverside to significantly boost cancer, ALS research
(University of California - Riverside) Maurizio Pellecchia at the University of California, Riverside has received two grants to continue his research aimed at finding therapeutics for cancer, amyotrophic lateral sclerosis (ALS), and other neurodegenerative diseases. The first grant from the US-Egypt Science and Technology Joint Fund of the National Academy of Sciences, Engineering, and Medicine totals $190,000 for two years. The second is a nearly $2.3 million, five-year grant from the National Institute of Neurological Disorders and Stroke.
Source: EurekAlert! - Cancer - June 21, 2018 Category: Cancer & Oncology Source Type: news