Results 251 to 260 of about 129,105 (287)

Role of cuproptosis in digestive system tumors (Review). [PDF]

Int J Mol Med
Zhang L, Cheng Y, Tang L, Zhu J, Tuo B.
europepmc   +1 more source

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

The Roles of Moonlighting Nicotinamide Mononucleotide Adenylyl Transferases in Cell Physiology. [PDF]

Int J Mol Sci
Lee YC, Lin SJ.
europepmc   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Decoding HSP90AA1-driven inflammatory signaling in the uveal melanoma microenvironment: an integrated analysis at single-cell resolution. [PDF]

Front Immunol
Wang Y, Hu Z, Zhou M, Wang P.
europepmc   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, Volume 46, Issue 2, Page 475-512, March 2026.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Endothelial gateways for brain lipid uptake and metabolism. [PDF]

J Clin Invest
Ranasinghe AD, Hla T.
europepmc   +1 more source

Turning up the heat: Can thermal therapy really protect muscle health in older adults?

Experimental Physiology, EarlyView.
Franck Brocherie, Yohan Rousse, Grégoire P. Millet   +2 more
wiley   +1 more source

Advances regarding the mechanism of endoplasmic reticulum stress in diabetic kidney disease and pharmacological interventions (Review). [PDF]

Mol Med Rep
Zhang P, Cui Y, Liu C, Cui C, Zhang S, Zhang Y, Li F.   +6 more
europepmc   +1 more source

Targeting the protein-protein interaction between the CDC37 cochaperone and client kinases by an allosteric RAF dimer breaker. [PDF]

J Biol Chem
Yu A, Banerjee S, Malasani S, Towolawi B, Liu Z, Wang Z.   +5 more
europepmc   +1 more source