Results 181 to 190 of about 202,059 (264)

Identifying and characterising a plant GH1 β‐glucosidase that exhibits hydrolytic activity on N‐linked glucopyranoside

FEBS Open Bio, EarlyView.
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli, Carlotta Chiesa, Maher Abou Hachem, Ditte Hededam Welner   +3 more
wiley   +1 more source

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report. [PDF]

BMC Neurol
Zhu H, Feng T, Dong W, Zhu S, Liu J, Wang J, Zhou P, Luo Z.   +7 more
europepmc   +1 more source

Structural studies and functional engineering of NanX: an anhydro‐sialic acid transporter from Escherichia coli

FEBS Open Bio, EarlyView.
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty, Kelsi R. Hall, Zachary D. Tillett, Liam S. Turk, James S. Davies, Michael J. Currie, Hamish G. Brown, Sepideh Valimehr, Peter D. Mace, Andrew E. Whitten, Santosh Panjikar, Eric Hanssen, Rachel A. North, Renwick C.J. Dobson   +13 more
wiley   +1 more source

Hormone Therapy After Oophorectomy and Breast Cancer Risk in Women With BRCA Pathogenic Variant.

JAMA Netw Open
Regev-Sadeh S, Michaelson-Cohen R, Madorksy-Feldman D, Friedman E, Armon S, Qarawani A, Srebnik N, Haddad J, Eisenberg VH, Segev Y.   +9 more
europepmc   +1 more source

Factors influencing uptake of risk-reducing mastectomy among unaffected Israeli BRCA1/BRCA2 pathogenic variant carriers. [PDF]

Fam Cancer
Laitman Y, Aharon K, Schloss T, Margolin L, Friedman E.   +4 more
europepmc   +1 more source

In silico and in vitro exploration of a tyrosinase for biocatalytic production of catechols

FEBS Open Bio, EarlyView.
Tyrosinase from Ralstonia pseudosolanacearum is a promising biocatalyst for producing valuable catechols from monophenol substrates. This tyrosinase is uniquely suited to this due to its high monophenolase : diphenolase ratio. We combined in silico docking and in vivo kinetic characterisation of this tyrosinase with 11 industrially relevant monophenols,
James Britton, Fang Zhao, Reeta Davis, Meg Walsh, Kevin E O'Connor, David O'Connell, Tanja Narancic   +6 more
wiley   +1 more source

Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma. [PDF]

Front Oncol
Cipri S, Cacchione A, Serra A, Del Baldo G, Miele E, Pedace L, Patrizi S, D'Antonio F, Agolini E, Novelli A, Crocoli A, Bertocchini A, Carai A, Barresi S, Rossi S, Alaggio R, Diomedi Camassei F, Colafati GS, Boccuto L, Mastronuzzi A.   +19 more
europepmc   +1 more source

Protocol for quantifying miRNA trafficking across the endosomal membrane

FEBS Open Bio, EarlyView.
An in vitro protocol measures miRNA uptake into endosomes isolated from mammalian cell extracts, which are free of subcellular contaminants. Performed at 37 °C in the presence of ATP, it ensures the import of single‐stranded miRNA into the endosomal lumen.
Syamantak Ghosh, Kamalika Mukherjee, Suvendra N. Bhattacharyya   +2 more
wiley   +1 more source

Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies. [PDF]

BJC Rep
Allen I, Whish N, Yadav S, Boddicker NJ, Drukker C, van de Beek I, Eccles DM, Turnbull C, Pharoah P, Antoniou AC, Easton DF, Couch FJ, Schmidt MK, Tischkowitz M.   +13 more
europepmc   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source