MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23723
Abstract: Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT‐ATP6 was among the first described human mitochondrial DNA diseases. Due… read more here.
Keywords: atp6 mitochondrial; biochemical features; atp6 variants; mitochondrial disease ... See more keywords
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12055
Abstract: SLC35A2‐CDG is caused by mutations in the X‐linked SLC35A2 gene encoding the UDP‐galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N‐glycans. SLC35A2‐CDG is characterized by severe neurological symptoms and, in many patients, early‐onset epileptic encephalopathy.… read more here.
Keywords: clinical neuroradiological; biochemical features; slc35a2 cdg; neuroradiological biochemical ... See more keywords
Parkinsonism due to A53E α‐synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features
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DOI: 10.1002/mds.27506
Abstract: SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The objectives of this study were… read more here.
Keywords: clinical genetic; epigenetic biochemical; biochemical features; genetic epigenetic ... See more keywords
Biochemical features and mutations of key proteins in SARS-CoV-2 and their impacts on RNA therapeutics
Sign Up to like & getrecommendations! Published in 2021 at "Biochemical Pharmacology"
DOI: 10.1016/j.bcp.2021.114424
Abstract: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused a global pandemic. Three viral proteins, the spike protein (S) for attachment of virus to host cells, 3-chymotrypsin-like cysteine protease (Mpro) for digestion of viral polyproteins… read more here.
Keywords: impacts rna; drug; rna therapeutics; biochemical features ... See more keywords
Clinical and biochemical features at diagnosis of type 1 diabetes in patients between 0 and 18 years of age from Jordan
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DOI: 10.1111/pedi.12625
Abstract: Data regarding type 1 diabetes mellitus (T1D) in Jordan are extremely scarce. We aim to evaluate the clinical and laboratory characteristics at diagnosis of T1D in a group of children from Jordan. read more here.
Keywords: clinical biochemical; jordan; features diagnosis; type diabetes ... See more keywords
Biochemical Features of Beneficial Microbes: Foundations for Therapeutic Microbiology.
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DOI: 10.1128/microbiolspec.bad-0012-2016
Abstract: Commensal and beneficial microbes secrete myriad products which target the mammalian host and other microbes. These secreted substances aid in bacterial niche development, and select compounds beneficially modulate the host and promote health. Microbes produce… read more here.
Keywords: microbes foundations; beneficial microbes; microbiology; biochemical features ... See more keywords