Results 161 to 170 of about 442,293 (268)

A Boy with a Novel Variant in <i>TCF20</i>: An Expanded Phenotype and a Brief Review of the Literature. [PDF]

Children (Basel)
Ziveri D, Cesaroni CA, Contrò G, Caraffi SG, Ormitti F, Giannini L, Pantani A, Cavalli A, Rizzi S, Pollazzon M, Frattini D, Fusco C.   +11 more
europepmc   +1 more source

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 more
europepmc   +1 more source

Identification of a Shiga toxin A‐derived peptide internalized into Gb3 receptor‐bearing cells via interaction with the Shiga toxin B subunit

FEBS Letters, EarlyView.
The process of internalization of the Shiga toxin A subunit via formation of a complex with the Shiga toxin B subunit, which specifically binds to the Gb3 receptor. The peptide is designed to act as a carrier of drugs into cancer cells. Here, we explored the potential of peptides derived from the catalytic A subunit of Shiga toxin (STxA) to be drug ...
Giulia Opassi, João C. Encarnação, Valeria Napolitano, Grzegorz Dubin, Grzegorz Popowicz, Karl Andersson, U. Helena Danielson   +6 more
wiley   +1 more source

Restless Eyes at Night: A Novel Variant of Restless Legs Syndrome. [PDF]

Eur J Case Rep Intern Med
Yanagita Y, Uehara T, Kishimoto K, Kase S, Li Y, Sato R, Yokokawa D.   +6 more
europepmc   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source

Late-onset Hailey-Hailey disease with a novel frame-shift variant in the ATP2C1 gene

Journal of Cutaneous Immunology and Allergy
Hiroka Iwata, Hirohito Kotani, Ai Kuzumi, Natsuko Inagaki, Natsuko Inagaki, Shinichi Sato   +5 more
doaj   +1 more source

Development of a Highly Sensitive ELISA for Detecting Antibodies Against a Novel Variant Avian Reovirus Based on Dual σC and σB Antigens. [PDF]

Animals (Basel)
Zhao F, Zhou W, Yuan Y, Peng Q, Wang W, Cao W.   +5 more
europepmc   +1 more source

AscF in the mycobacterial CIII–CIV supercomplex lacks metal and nucleotide binding but links malate oxidation to respiration

FEBS Letters, EarlyView.
The mycobacterial CIII‐CIV respiratory supercomplex is an obligate assembly, encompassing several subunits of unknown functions. We have characterized the intracellular subunit AscF, and show that it is unlikely to be a sensor for metals or nucleotides, but is required for growth on nonfermentable energy sources, and likely works as an adapter for ...
Eni Rile, Riccardo Diamanti, Daniel Lundin, Soni Sharma, Robin Lissner, Coenraad P. Kuil, Martin Högbom, Dirk Bald, Dan Sjöstrand   +8 more
wiley   +1 more source

Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]

Gastroenterol Rep (Oxf)
Liu AX, Liu KH, Guo RY, Ying JM, Zou SM, Dong L.   +5 more
europepmc   +1 more source