Results 41 to 50 of about 117,669 (273)

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene

Allergy, Asthma & Clinical Immunology, 2023
Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity ...
Soodeh Ghadimi, Mahnaz Jamee, Hassan Abolhassani, Nima Parvaneh, Nima Rezaei, Samaneh Delavari, Mahnaz Sadeghi-Shabestari, Sedigheh Rafiei Tabatabaei, Alireza Fahimzad, Shahnaz Armin, Zahra Chavoshzadeh, Samin Sharafian   +11 more
doaj   +1 more source

Plant DNA polymerases [PDF]

, 2019
Maintenance of genome integrity is a key process in all organisms. DNA polymerases (Pols) are central players in this process as they are in charge of the faithful reproduction of the genetic information, as well as of DNA repair.
De Veylder, Lieven, Pedroza-Garcia, José Antonio, Raynaud, Cécile   +2 more
core   +3 more sources

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. [PDF]

, 2018
Deficiency of ribosomal proteins (RPs) leads to Diamond Blackfan Anemia (DBA) associated with anemia, congenital defects, and cancer. While p53 activation is responsible for many features of DBA, the role of immune system is less defined.
Bibikova, Elena, Danilova, Nadia, Lin, Shuo, Sakamoto, Kathleen M, Wilkes, Mark, Youn, Min-Young   +5 more
core   +2 more sources

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure

Nature Communications
Congenital nucleotide excision repair (NER) deficiency gives rise to several cancer-prone and/or progeroid disorders. It is not understood how defects in the same DNA repair pathway cause different disease features and severity.
Alba Muniesa-Vargas, Carlota Davó-Martínez, Cristina Ribeiro-Silva, Melanie van der Woude, Karen L. Thijssen, Ben Haspels, David Häckes, Ülkem U. Kaynak, Roland Kanaar, Jurgen A. Marteijn, Arjan F. Theil, Maayke M. P. Kuijten, Wim Vermeulen, Hannes Lans   +13 more
doaj   +1 more source

Influence of vitamin D status and vitamin D3 supplementation on genome wide expression of white blood cells: a randomized double-blind clinical trial. [PDF]

PLoS ONE, 2013
Although there have been numerous observations of vitamin D deficiency and its links to chronic diseases, no studies have reported on how vitamin D status and vitamin D3 supplementation affects broad gene expression in humans. The objective of this study
Arash Hossein-nezhad, Avrum Spira, Michael F Holick   +2 more
doaj   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source