Structural and kinetic studies of human aldh7a1 and aldh9a1 [PDF]
, 2021 The regulation and detoxification of endogenously and exogenously derived aldehydes is paramount to cellular survival due to the highly reactive nature of aldehydes as electrophiles. Human aldehyde dehydrogenases (ALDHs) are a superfamily of oxidoreductase enzymes that have critical roles in this regulation and detoxification.
openaire +2 more sources
A Pathway-centric Approach to Rare Variant Association Analysis [PDF]
, 2016 Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally ...
Campbell, Colin +3 more
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Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures [PDF]
Epilepsia, 2009 SummaryPyridoxine‐dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine.
STRIANO, PASQUALE +7 more
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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
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Anopheles stephensi p38 MAPK signaling regulates innate immunity and bioenergetics during Plasmodium falciparum infection. [PDF]
, 2015 BackgroundFruit flies and mammals protect themselves against infection by mounting immune and metabolic responses that must be balanced against the metabolic needs of the pathogens.
Aguirre, Alejandro +13 more
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Characterization of aldehyde dehydrogenase isozymes in ovarian cancer tissues and sphere cultures [PDF]
, 2012 BACKGROUND: Aldehyde dehydrogenases belong to a superfamily of detoxifying enzymes that protect cells from carcinogenic aldehydes. Of the superfamily, ALDH1A1 has gained most attention because current studies have shown that its expression is associated ...
David Thompson +12 more
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Single-cell entropy for accurate estimation of differentiation potency from a cell's transcriptome [PDF]
, 2017 The ability to quantify differentiation potential of single cells is a task of critical importance. Here we demonstrate, using over 7,000 single-cell RNA-Seq profiles, that differentiation potency of a single cell can be approximated by computing the ...
Enver, T, Teschendorff, AE
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Zika virus infection reprograms global transcription of host cells to allow sustained infection. [PDF]
, 2017 Zika virus (ZIKV) is an emerging virus causally linked to neurological disorders, including congenital microcephaly and Guillain-Barré syndrome. There are currently no targeted therapies for ZIKV infection.
Bansal, Vikas +5 more
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Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Martens J +4 more
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Genetic basis of hyperlysinemia [PDF]
, 2013 Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported.
Augoustides-Savvopoulou, P. (Persa) +14 more
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