Results 271 to 280 of about 2,389,640 (367)

Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation [PDF]

, 2001
Sabina Baumgartner‐Parzer, E Schulze, W Waldhäusl, S. Pauschenwein, Susanne Rondot, P. Nowotny, Knud Erik Meyer, H Frisch, Franz Waldhauser, H. Vierhapper   +9 more
openalex   +1 more source

Expanding our understanding of synucleinopathies: proteinopathy, proteinopenia, and lipidopathy

The FEBS Journal, EarlyView.
Neurodegeneration is thought to arise due to the disruption of the protein homeostasis. In synucleinopathies, alterations in the levels of functional and aggregated aSyn lead to proteinopenia and proteinopathy, respectively. aSyn and β‐glucocerebrosidase are closely linked to lipid metabolism, impacting organelle function and lipidostasis.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

Interaction of TFAP2A with the Ku70/80 complex is crucial for HIF‐dependent activation of hypoxia‐inducible genes

The FEBS Journal, EarlyView.
Under normoxic conditions, the SUMOylated fraction of TFAP2A cannot interact with the Ku70/Ku80 complex, nor it can bind to chromatin. The unSUMOylated fraction pre‐occupies the chromatin of a subset of hypoxia‐induced genes together with the Ku70/Ku80 complex for basal euchromatin formation. Under hypoxic conditions, the SUMOylation equilibrium shifts
Amalia Kanoura, Antonis Giakountis, Chrysa Filippopoulou, Angeliki Karagiota, George Stamatakis, Martina Samiotaki, George Panayotou, George Simos, Georgia Chachami   +8 more
wiley   +1 more source

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Yang M, White PC.
europepmc   +1 more source

21-Hydroxylase Heterozygotism and Immune Regulationc [PDF]

Journal of Clinical Endocrinology & Metabolism, 1997
openaire   +3 more sources

Derivatives of MOPS: promising scaffolds for SARS coronaviruses Macro domain‐targeted inhibition

The FEBS Journal, EarlyView.
The SARS‐CoV/CoV‐2 genome encodes non‐structural protein 3, which contains a ‘Macro domain’. This protein domain exhibits antagonistic activity against interferon signaling, which disrupts the host innate immune response and can thus mediate viral escape, highlighting its therapeutic potential.
Oney Ortega Granda, Karine Alvarez, Benjamin Morin, Bruno Canard, François Ferron, Nadia Rabah   +5 more
wiley   +1 more source

Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Eitel KB, Fechner PY.
europepmc   +1 more source

Editorial: Rare forms of pediatric adrenal disorders: beyond congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [PDF]

Front Endocrinol (Lausanne)
Ferrigno R, Salerno M, Savage MO.
europepmc   +1 more source

Protein succinylome analysis identifies citrate synthase as a central regulator of osteoclast metabolic activity

The FEBS Journal, EarlyView.
RANKL treatment induces expression of the aconitate decarboxylase (ACOD1) in differentiating osteoclasts, which increases succinate levels. The initially high expression of ACOD1 decreases towards the end of differentiation when the levels of the desuccinylase SIRT5 increase. Succinylation of citrate synthase (CS) was detected exclusively in stimulated
Dayoung Yu, Yue Gao, Marcin Luzarowski, Elisabeth Seebach, Thomas Heitkamp, Michael Börsch, Thomas Ruppert, Katharina F. Kubatzky   +7 more
wiley   +1 more source

Clinical characteristics and treatment during preconception and perinatal period of infertile women with non-classical 21-hydroxylase deficiency. [PDF]

Reprod Health
Cui X, Li P.
europepmc   +1 more source