Results 71 to 80 of about 5,767 (207)

Isolation of isoprene degrading bacteria from soils, development of isoA gene probes and identification of the active isoprene degrading soil community using DNA-stable isotope probing [PDF]

open access: yes, 2016
Emissions of biogenic volatile organic compounds (bVOCs), are an important element in the global carbon cycle, accounting for a significant proportion of fixed carbon.
Acuña Alvarez   +53 more
core   +1 more source

Balanced Expression of the Diiron Oxygenase BioE Is Essential for Biotin Homeostasis in Elizabethkingia meningoseptica

open access: yesAdvanced Science, Volume 13, Issue 10, 18 February 2026.
BioE is a new diiron oxygenase that catalyzes the conversion of long‐chain acyl groups into pimeloyl thioester, initiating biotin synthesis. The overexpression of EmBioE disrupts lipid metabolic homeostasis, requiring repressor BioL to maintain a balance between long‐chain fatty acids and biotin synthesis.
Meng Zhang   +9 more
wiley   +1 more source

Single‐cell analysis reveals neuroprotective histone deacetylase inhibitor pathways

open access: yesAlzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) involves β‐amyloid (Aβ) accumulation, tau pathology, and neuroinflammation, driving cognitive decline. Despite extensive research, disease‐modifying therapies remain elusive. We integrated single‐cell RNA sequencing (scRNA‐seq), spatial transcriptomics, and in vitro validation to identify repurposable ...
Madeline Peyton   +12 more
wiley   +1 more source

A Case of Glutaric Aciduria Type I with a Novel Mutation

open access: yesÇukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal   +4 more
doaj  

Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]

open access: yes, 2015
This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
core  

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

open access: yesClinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

open access: yesMolecular Genetics and Metabolism Reports, 2019
Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the ...
Felix-Julian Campos-Garcia   +8 more
doaj   +1 more source

Molecular mechanism of ethylene stimulation of latex yield in rubber tree (Hevea brasiliensis) revealed by de novo sequencing and transcriptome analysis [PDF]

open access: yes, 2016
Differential expression of unigenes involved in hormone signaling in E8 and E24 compared to C samples of Hevea brasiliensis. Ethylene signalling pathway: ETR1: ETHYLENE RESPONSE 1; CTR1: CONSTITUTIVE TRIPLE RESPONSE 1; EIN2: ETHYLENE INSENSITIVE 2; EIN3:
Jin-Ping Liu   +3 more
core   +9 more sources

Blocking Lysine Crotonylation and Aerobic Glycolysis as Targeting Strategy Against mpox Virus Replication

open access: yesAdvanced Science, Volume 13, Issue 4, 19 January 2026.
Wei et al. report that MPXV infection induces aerobic glycolysis, a process mediated by the viral protein I3 through lysine crotonylation at its K102 residue. The acetyltransferase MYST1 catalyzes the crotonylation of I3 to inhibit the ubiquitin‐mediated degradation of WDR26.
Pengjun Wei   +12 more
wiley   +1 more source

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]

open access: yesPLoS ONE, 2013
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari   +5 more
doaj   +1 more source

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