Results 141 to 150 of about 544,097 (312)

Glutathione synthetase deficiency associated with antenatal cerebral bleeding

, 2004
We present a newborn with glutathione synthetase deficiency and intracranial haemorrhages. Because the latter are rare in term newborns a possible relationship with glutathione synthetase deficiency will be ...
Brüggemann, L. W., Groenendaal, F., Duran, M., de Koning, T. J., van Lier, J. A. C., Ristoff, E., Berger, R., Larsson, A., Dorland, L.   +8 more
core   +1 more source

Puzzling cases of pediatric microcytosis

Pediatric Hematology Oncology Journal
Background: Iron deficiency anemia is a common diagnosis in the pediatric age group and often attributed to poor diet, excessive milk intake, or blood loss.
Alyssa Wilder, Nadia Cheek, Julie Voeller, Timothy C. Griffin, Latha Prasannan   +4 more
doaj   +1 more source

APP Genetic Deficiency Alters Intracellular Ca²⁺ Homeostasis and Delays Axonal Degeneration in Dorsal Root Ganglion Sensory Neurons. [PDF]

J Neurosci, 2022
de León A, Gibon J, Barker PA.
europepmc   +1 more source

An unexpected alternative viologen electron mediator site in tungsten‐containing formate dehydrogenase

FEBS Letters, EarlyView.
An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley   +1 more source

Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor. [PDF]

J Clin Invest, 2022
Godsel LM, Roth-Carter QR, Koetsier JL, Tsoi LC, Huffine AL, Broussard JA, Fitz GN, Lloyd SM, Kweon J, Burks HE, Hegazy M, Amagai S, Harms PW, Xing X, Kirma J, Johnson JL, Urciuoli G, Doglio LT, Swindell WR, Awatramani R, Sprecher E, Bao X, Cohen-Barak E, Missero C, Gudjonsson JE, Green KJ.   +25 more
europepmc   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism

, 2019
Murine succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with high concentrations of γ-aminobutyric acid (GABA) and γ-hydroxybutyrate (GHB) and low glutamine in the brain.
Walters, Dana C., Roullet, Jean-Baptiste, Hill, James, McConnell, Alice, Bottiglieri, Teodoro, Jansen, Erwin E. W., Arning, Erland, Schmidt, Michelle A., Gibson, K. Michael, Salomons, Gajja S., Brown, Madalyn N.   +10 more
core   +1 more source

Fecal microbiota transplantation ameliorates atherosclerosis in mice with C1q/TNF-related protein 9 genetic deficiency. [PDF]

Exp Mol Med, 2022
Kim ES, Yoon BH, Lee SM, Choi M, Kim EH, Lee BW, Kim SY, Pack CG, Sung YH, Baek IJ, Jung CH, Kim TB, Jeong JY, Ha CH.   +13 more
europepmc   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Genetic Deficiency of Indoleamine 2,3-dioxygenase Aggravates Vascular but Not Liver Disease in a Nonalcoholic Steatohepatitis and Atherosclerosis Comorbidity Model. [PDF]

Int J Mol Sci, 2022
Arora A, Tripodi GL, Kareinen I, Berg M, Forteza MJ, Gisterå A, Griepke S, Casagrande FB, Martins JO, Abdalla DSP, Cole J, Monaco C, Ketelhuth DFJ.   +12 more
europepmc   +1 more source